Raras
Buscar doenças, sintomas, genes...
Hiperoxalúria primária
ORPHA:416CID-10 · E74.8CID-11 · 5C51.2DOENÇA RARA

Distúrbio hereditário caracterizado pela produção excessiva de oxalato, levando à hiperoxalúria.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Distúrbio hereditário caracterizado pela produção excessiva de oxalato, levando à hiperoxalúria.

Pesquisas ativas
13 ensaios
51 total registrados no ClinicalTrials.gov
Publicações científicas
1.651 artigos
Último publicado: 2026 Apr 14

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.2
Germany
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E74.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫘
Rins
17 sintomas
🦴
Ossos e articulações
6 sintomas
👁️
Olhos
5 sintomas
❤️
Coração
4 sintomas
🫃
Digestivo
3 sintomas
🧠
Neurológico
2 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

90%prev.
Nefrolitíase por oxalato de cálcio
Muito frequente (99-80%)
90%prev.
Hiperoxalúria
Muito frequente (99-80%)
55%prev.
Neovascularização coroide
Frequente (79-30%)
55%prev.
Bloqueio cardíaco
Frequente (79-30%)
55%prev.
Anormalidade da polpa dentária
Frequente (79-30%)
55%prev.
Dor óssea
Frequente (79-30%)
66sintomas
Muito frequente (2)
Frequente (25)
Ocasional (3)
Muito raro (3)
Sem dados (33)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 66 características clínicas mais associadas, ordenadas por frequência.

Nefrolitíase por oxalato de cálcioCalcium oxalate nephrolithiasis
Muito frequente (99-80%)90%
HiperoxalúriaHyperoxaluria
Muito frequente (99-80%)90%
Neovascularização coroideChoroidal neovascularization
Frequente (79-30%)55%
Bloqueio cardíacoHeart block
Frequente (79-30%)55%
Anormalidade da polpa dentáriaAbnormality of the dental pulp
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.651PubMed
Últimos 10 anos200publicações
Pico202479 papers
Linha do tempo
2026Hoje · 2026🧪 2003Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

AGXTAlanine--glyoxylate aminotransferaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152)

LOCALIZAÇÃO

Peroxisome

VIAS BIOLÓGICAS (1)
Peroxisomal protein import
MECANISMO DE DOENÇA

Hyperoxaluria primary 1

An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.

OUTRAS DOENÇAS (1)
primary hyperoxaluria type 1
HGNC:341UniProt:P21549
HOGA14-hydroxy-2-oxoglutarate aldolase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the final step in the metabolic pathway of hydroxyproline

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Glyoxylate metabolism and glycine degradation
MECANISMO DE DOENÇA

Hyperoxaluria primary 3

A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection.

EXPRESSÃO TECIDUAL(Ubíquo)
Rim - Medula
31.5 TPM
Fígado
29.9 TPM
Rim - Córtex
28.9 TPM
Glândula adrenal
10.2 TPM
Cerebelo
9.2 TPM
OUTRAS DOENÇAS (1)
primary hyperoxaluria type 3
HGNC:25155UniProt:Q86XE5
GRHPRGlyoxylate reductase/hydroxypyruvate reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidizes D-glycerate to hydroxypyruvate

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Glyoxylate metabolism and glycine degradation
MECANISMO DE DOENÇA

Hyperoxaluria primary 2

A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
105.8 TPM
Linfócitos
76.2 TPM
Glândula adrenal
68.9 TPM
Nervo tibial
57.9 TPM
Fibroblastos
53.0 TPM
OUTRAS DOENÇAS (1)
primary hyperoxaluria type 2
HGNC:4570UniProt:Q9UBQ7

Medicamentos aprovados (FDA)

2 medicamentos encontrados nos registros da FDA americana.

💊 OXLUMO (LUMASIRAN)
💊 RIVFLOZA (NEDOSIRAN)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

938 variantes patogênicas registradas no ClinVar.

🧬 AGXT: GRCh37/hg19 2q33.3-37.3(chr2:206965837-242783384)x3 ()
🧬 AGXT: NM_000030.3(AGXT):c.346G>C (p.Gly116Arg) ()
🧬 AGXT: NM_000030.3:c.1_595del ()
🧬 AGXT: NM_000030.3(AGXT):c.358+1G>A ()
🧬 AGXT: NM_000030.3(AGXT):c.193C>T (p.Gln65Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,136 variantes classificadas pelo ClinVar.

341
795
Patogênica (30.0%)
VUS (70.0%)
VARIANTES MAIS SIGNIFICATIVAS
HOGA1: NM_138413.4(HOGA1):c.908_912delinsACGCA (p.Arg303His) [Likely pathogenic]
AGXT: NM_000030.3:c.1_595del [Pathogenic]
AGXT: NM_000030.3(AGXT):c.358+1G>A [Pathogenic]
AGXT: NM_000030.3(AGXT):c.193C>T (p.Gln65Ter) [Pathogenic]
GRHPR: NM_012203.2(GRHPR):c.272del (p.Asp91fs) [Likely pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 34
2Fase 23
1Fase 13
·Pré-clínico10
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hiperoxalúria primária

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

9 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

51 ensaios clínicos encontrados, 13 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
731 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 731

#1

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.

Journal of inherited metabolic disease2026 Jan

Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine-glyoxylate aminotransferase mislocalization. Patient-derived fibroblasts were induced to pluripotent stem cells, genetically corrected with adenine base editing, and subsequently differentiated into hepatocyte-like cells in parallel with their non-corrected isogenic counterparts. Enzyme localization was assessed through immunocytochemistry and confocal microscopy. The key metabolites associated with the disease were analyzed using liquid chromatography-mass spectrometry to evaluate the metabolic phenotype. Finally, lipid nanoparticle formulations were designed and tested as an in vivo-applicable delivery method for base editors. All induced pluripotent stem cell lines successfully differentiated into hepatocyte-like cells and expressed essential hepatocyte markers, including ALB, HNF1A, and AGXT. Adenine base editor-mediated genetic correction of the pathogenic AGXT mutation restored enzyme localization into peroxisomes and diminished oxalate accumulation without significant off-target effects. Base editor mRNA and AGXT variant targeting single guide RNA encapsulated within lipid nanoparticles mediated gene correction in the hepatocyte-like cell model. Using an in vitro model of primary hyperoxaluria type 1, we showed that base editor-mediated genetic correction of the most common hyperoxaluria-causing variant corrects enzyme mislocalization from mitochondria to peroxisomes and improves metabolic function. These results propose gene correction as a potential therapeutic approach to hyperoxaluria.

#2

N-Propargylglycine Restores Survival by Preventing Calcium Oxalate Stone Formation, Tubular Injury, and Kidney Dysfunction in a Lethal Mouse Model of Primary Hyperoxaluria Type 2.

Kidney international2026 Mar 20

New therapeutics are needed to address the rapid progression of calcium oxalate (CaOx) nephrolithiasis and life-threatening kidney failure afflicting infants and young adults with one of the three different genetic types of Primary Hyperoxaluria (PH) types 1, 2, and 3. Glyoxylate and hydroxypyruvate reductase knockout (Grhpr KO) mice recapitulate the pathophysiology of PH type 2 (PH2), developing accelerated hyperoxaluria and CaOx kidney stone formation. Previous studies have shown that this process can be mitigated by introducing an additional genetic knockout of the liver and kidney mitochondrial enzyme, hydroxyproline dehydrogenase (Hypdh/Prodh2), which is responsible for the first step in liver production of glyoxylate and oxalate. Using Grhpr KO mice, we evaluated N-propargylglycine (N-PPG) as a preclinical candidate for PH2, measuring oxalate levels, CaOx stone formation, Cystatin C levels, albumin/creatinine ratio, kidney tubule damage by kidney injury molecule-1 and Lotus Tetragonolobus lectin immunohistochemistry, metabolites, weight, and lifespan. Oral administration of N-PPG, a well-tolerated small-molecule inhibitor of Hypdh/Prodh2, significantly reduces hyperoxaluria and weight loss in Grhpr KO mice within three weeks, while preventing CaOx stone formation and kidney tubular damage. In a 24-week survival study during which vehicle-treated Grhpr KO mice exhibit a median survival of only 15 weeks, daily treatment with N-PPG fully restores weight and survival in the Grhpr KO mice to that of wild-type control mice. N-PPG suppressed hyperoxaluria during this extended treatment period, preventing CaOx stone formation, kidney tubule injury and loss of kidney function, achieving beneficial outcomes in this PH2 mouse model comparable to controls. Our findings establish N-PPG as a promising therapeutic candidate for the long-term prevention of CaOx kidney stone formation and kidney failure complications in PH2.

#3

Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.

Kidney medicine2026 Apr

Calcium oxalate nephropathy is a rare condition with both primary and secondary causes. Primary hyperoxaluria, an inherited disorder, leads to liver oxalate overproduction, whereas secondary hyperoxaluria, or enteric hyperoxaluria, may be multifactorial and typically occurs during adulthood, with etiologies including increased dietary intake of oxalate, destruction of the microbiota in the gastrointestinal tract that break down oxalate, and malabsorptive disorders that increase serum oxalate levels. Calcium oxalate crystal deposition can cause irreversible kidney injury necessitating kidney replacement therapy. Prompt recognition of the underlying etiology is necessary to minimize complications. Here, we present a case of calcium oxalate nephropathy of unclear initial etiology. Further consideration is given to alternative therapeutic options that address oxalate deposition-associated interstitial inflammation.

#4

Genomic testing in pediatric urology: Implications for diagnosis and management.

Journal of pediatric urology2026 Feb 03

Genomic medicine is becoming increasingly relevant to pediatric urology. Developing an understanding of which children might benefit from genomic testing and how genomic results might impact clinical decision-making will become a necessary skill in the next few years. A genetic diagnosis can provide certainty, prompt screening of other organ systems, guide treatment and surveillance, enable testing of family members and inform reproductive counselling. In this review, we provide an overview of several monogenic conditions that might be encountered in the pediatric urology clinic and guidance on when to refer for genomic testing. We discuss monogenic congenital uropathies and how knowledge of the genetic basis of these conditions has improved understanding of disease pathophysiology. We summarise recommendations for genomic testing in pediatric stone formers, of whom around 20 % have a monogenic cause, and show how this can facilitate access to targeted therapies (e.g. primary hyperoxaluria type 1). Finally, we review how genotype-phenotype correlations can be used to guide risk stratification, surveillance protocols and screening of other organ systems in children at risk of Wilms tumour.

#5

Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.

Pediatric nephrology (Berlin, Germany)2026 Feb 17

Primary hyperoxaluria type 2 is a rare genetic disorder of oxalate due to a defect in the glyoxalate reductase/hydroxypyruvate reductase enzyme. This study aimed to describe the characteristics and outcomes in a pediatric population from a single center in Pakistan. This study was conducted at the Sindh Institute of Urology and Transplantation (SIUT), Karachi, from January 2010 to December 2022, involving children under 18 years with nephrocalcinosis. Data collected included demographics, clinical features, laboratory findings, imaging results, family history of kidney stones, and consanguinity. Genetic testing, including next-generation sequencing and Sanger sequencing, was performed, and patients were followed for 24 months to monitor the progression of chronic kidney disease (CKD) stages. Fifty-two children were diagnosed with primary hyperoxaluria type 2 (PH2) confirmed by genetic testing. The majority were male (56%), between 5 and 10 years of age (46%), and from the Sindh province (62%). Seventeen distinct GRHPR gene mutations were identified, predominantly missense variants. The most frequent mutation was Gly165Asp (observed in 12 patients), followed by Leu6Phe and Trp138Arg (8 and 7 patients, respectively). Six of the identified mutations were novel. At presentation, 30% of children were in CKD stage 5, and this proportion increased to 42% after 24 months of follow-up. Male sex and higher baseline serum creatinine were significant predictors of progression to CKD stage 5. This is the first reported PH2 cohort from Pakistan, highlights a significant disease burden with diverse GRHPR mutations, with most patients presenting in advanced CKD stage 5 at diagnosis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.135 artigos no totalmostrando 198

2026

N-Propargylglycine Restores Survival by Preventing Calcium Oxalate Stone Formation, Tubular Injury, and Kidney Dysfunction in a Lethal Mouse Model of Primary Hyperoxaluria Type 2.

Kidney international
2026

Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.

Kidney medicine
2026

Publisher Correction: Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.

Pediatric nephrology (Berlin, Germany)
2026

Coexistence of autosomal dominant polycystic kidney disease and primary hyperoxaluria type 3.

Kidney international
2026

Genomic testing in pediatric urology: Implications for diagnosis and management.

Journal of pediatric urology
2026

Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.

Pediatric nephrology (Berlin, Germany)
2026

Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.

Journal of clinical medicine
2026

A Case of Successful Kidney Transplant-Alone in Primary Hyperoxaluria Type 1 Using Lumasiran.

Clinical transplantation
2026

The Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1.

Journal of personalized medicine
2026

The oxalobiome: unraveling the role of gut microbiota in oxalate metabolism and its implications for kidney health and disease management.

Clinica chimica acta; international journal of clinical chemistry
2026

Primary hyperoxaluria(s): from trials to real-life data and pipeline therapies.

Kidney international
2026

Hyperoxaluria by the AGXT gene: a case report.

Journal of medical case reports
2026

Current status of primary hyperoxaluria type 1 in Japan.

Urolithiasis
2026

Don't think that combined liver kidney transplant can solve everything in primary hyperoxaluria type 1!

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

Ten tips on the work-up and management of CKD patients with nephrolithiasis.

Clinical kidney journal
2026

Targeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1.

Journal of medicinal chemistry
2026

Nanobodies as therapies for loss-of-function misfolding diseases: the example of Primary Hyperoxaluria Type 1.

International journal of biological macromolecules
2026

Final Results of the ILLUMINATE-A Phase 3 Clinical Trial of Lumasiran for Primary Hyperoxaluria 1.

Clinical journal of the American Society of Nephrology : CJASN
2026

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.

Journal of inherited metabolic disease
2025

LNP-mediated in vivo base editing corrects Agxt to cure primary hyperoxaluria type 1.

Clinical and translational medicine
2025

Oxalate nephropathy precipitated by linaclotide in a high-risk patient.

Clinical nephrology. Case studies
2025

Surgical Management of Pediatric Primary Hyperoxaluria Type 1: An Eight-Patient Case Series in the Pre-siRNA Era.

Pediatric transplantation
2026

Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.

Pediatric nephrology (Berlin, Germany)
2025

Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.

Kidney medicine
2025

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.

Orphanet journal of rare diseases
2025

Piperacillin Pharmacokinetics in a Pediatric Patient With Primary Hyperoxaluria Receiving High-Dose Continuous Dialysis Post Liver-Kidney Transplant.

The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG
2025

Recognizing Primary Hyperoxaluria in Adults through Urine Oxalate Crystal Detection. Literature Review and Data Analysis.

Archivos espanoles de urologia
2025

Real-world burden of primary hyperoxaluria with chronic kidney disease in the United States: a retrospective administrative claims analysis.

BMC nephrology
2025

[Primary hyperoxaluria-induced bilateral oxalate retinopathy: a case report].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2025

RNA interference medication and transplantation procedures in patients with primary hyperoxaluria type 1 (PH1).

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Transplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.

Therapeutics and clinical risk management
2026

Urine Oxalate Excretion and CKD Stage in Patients With Primary Hyperoxaluria Type 1.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2026

Long-term lumasiran therapy final results from a Phase 2 open-label extension study in primary hyperoxaluria.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Primary Hyperoxaluria Type 2 Masquerading as Chronic Kidney Disease of Unknown Origin in an Adolescent: A Case Report.

Cureus
2026

A reliable LC-MS/MS method for urinary oxalate determination and its comparison with analogous assays.

Clinica chimica acta; international journal of clinical chemistry
2025

Primary Hyperoxaluria Type 1: An Unexpected Diagnosis after Kidney Transplantation.

Kidney &amp; blood pressure research
2025

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Clinical kidney journal
2025

Liver Transplantation in Childhood: A 2-Year Single Center Experience.

Transplantation proceedings
2025

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.

Kidney international reports
2025

The evolving role of liver transplantation as enzyme replacement therapy in the era of RNA nanotherapies.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
2025

Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.

Clinical journal of the American Society of Nephrology : CJASN
2025

RNA therapeutics in kidney diseases: prospects and current status.

Clinical kidney journal
2025

Dietary Oxalate Nephropathy Due to Pureed Feeds.

Kidney medicine
2025

Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

The Journal of biological chemistry
2025

Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.

Seminars in nephrology
2025

Lumasiran at birth changes the trajectory of primary hyperoxaluria type 1: same disease, different outcomes in two affected siblings.

Journal of nephrology
2025

PHYOX3: Nedosiran Long-Term Safety and Efficacy in Patients With Primary Hyperoxaluria Type 1.

Kidney international reports
2025

Hyperoxaluria: Diagnosis and Treatment.

The Urologic clinics of North America
2025

Population Pharmacokinetic and Pharmacodynamic Modelling and Simulation for Nedosiran Clinical Development and Dose Guidance in Pediatric Patients with Primary Hyperoxaluria Type 1.

Clinical pharmacokinetics
2025

Chronic leg ulcers in a patient with Hyperoxaluria type 1: a rare and challenging diagnosis.

Oxford medical case reports
2025

Normal urinary oxalate excretion in 4-hydroxy-2-oxo-glutarate aldolase 1 (HOGA1) deficient mice with AGT expression in peroxisomes and not in mitochondria.

Biochimica et biophysica acta. Molecular basis of disease
2025

Plasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.

Case reports in nephrology and dialysis
2025

Kidney stones and metabolic bone diseases not linked to parathyroid disfunction: a proposal for an integrated management.

Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica
2025

[Administration of lumasiran in a child with infantile oxalosis undergoing chronic peritoneal dialysis: A case report].

Nephrologie &amp; therapeutique
2025

A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.

Journal of inherited metabolic disease
2025

Primary hyperoxaluria type 1 diagnosis in adult dialysis patients: prediction model assessment in a group of Italian patients.

Journal of nephrology
2025

Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment.

Frontiers in pharmacology
2025

Updated Gene Therapy for Renal Inborn Errors of Metabolism.

Genes
2025

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.

Genes
2025

Liver Transplantation in Primary Hyperoxaluria: A Single-Center 10-Year Experience.

Pediatric transplantation
2025

Understanding Rare Kidney Stone Diseases: A Review.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2025

Treatment preferences among individuals with primary hyperoxaluria type 1 (PH1): a real-world study.

Orphanet journal of rare diseases
2025

Real-Life Data of 2-Year Lumasiran Use in the DAILY-LUMA Cohort.

Kidney international reports
2025

The efficacy and safety of RNA interference for the treatment of primary hyperoxaluria: a systematic review and meta-analysis.

Clinical kidney journal
2025

Hidden in CAKUT: Post-Transplant Diagnosis of Primary Hyperoxaluria Type 1 and Rescue Management Using Lumasiran.

Pediatric transplantation
2025

Preclinical evaluation of AGT mRNA replacement therapy for primary hyperoxaluria type I disease.

Science advances
2025

Controlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Discovery of first-in-class human glycolate oxidase near infrared molecular rotor inhibitors (NIRGOi).

European journal of medicinal chemistry
2025

HOGA1 Suppresses Renal Cell Carcinoma Growth via Inhibiting the Wnt/β-Catenin Signalling Pathway.

Journal of cellular and molecular medicine
2025

Efficacy and Safety of Lumasiran for Advanced Primary Hyperoxaluria Type 1: 24-Month Follow-up of the Phase 3 ILLUMINATE-C Trial.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2025

Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.

Pediatric transplantation
2025

Fine-tuning circulating oxalate levels to improve transplant strategies in primary hyperoxaluria: what is the ideal threshold in pediatrics?

Nephrologie &amp; therapeutique
2025

A Targeted Release Capsule of Lanthanum Carbonate: a New Efficient Cheap Treatment for Primary Hyperoxalurias.

Kidney international reports
2025

Concomitant Treatment With Lumasiran and Nedosiran in a Child With Primary Hyperoxaluria Type 1.

Kidney international reports
2025

Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

Genetic Diagnosis of Hyperoxaluria Type 3 Patients Using Haplotype Analysis.

Kidney &amp; blood pressure research
2024

[Management of patients with kidney stones].

Nephrologie &amp; therapeutique
2025

Kidney Stones in Children: Causes, Consequences, and Concerns.

Indian pediatrics
2025

Modified J-shaped incision for combined pediatric liver-kidney transplants (CLKT): Focusing on the urological outcomes.

Journal of pediatric urology
2025

Management of genetically determined kidney stone disease: consensus from a panel of urologists and nephrologists.

Minerva urology and nephrology
2025

Efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria: A systematic review and meta-analysis of randomized controlled trials.

Indian journal of urology : IJU : journal of the Urological Society of India
2025

Nedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8).

Pediatric nephrology (Berlin, Germany)
2025

Biochemical, structural, and cellular characterization of S-but-3-yn-2-ylglycine as a mechanism-based covalent inactivator of the flavoenzyme proline dehydrogenase.

Archives of biochemistry and biophysics
2025

Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.

Pediatric nephrology (Berlin, Germany)
2025

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.

Kidney international reports
2024

Synthesis and hLDHA Inhibitory Activity of New Stiripentol-Related Compounds of Potential Use in Primary Hyperoxaluria.

International journal of molecular sciences
2025

Spinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review.

Kidney medicine
2025

Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.

Human cell
2025

Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Nephrology (Carlton, Vic.)
2025

Cutting through the stones: Unlocking therapeutic potential with gene editing tools for primary hyperoxaluria type 1.

Molecular therapy : the journal of the American Society of Gene Therapy
2024

Application of four pricing models for orphan medicines: a case study for lumasiran.

Orphanet journal of rare diseases
2024

Stenotrophomonas maltophilia in Hemodialysis: An Opportunistic Pathogen or a Malevolent Foe.

Cureus
2025

Effect of the allelic background on the phenotype of primary hyperoxaluria type I.

Current opinion in nephrology and hypertension
2025

Efficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

The lack of trade-off between conformational stability and binding affinity in a nanobody with therapeutic potential for a misfolding disease.

International journal of biological macromolecules
2025

Human glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluria.

Journal of inherited metabolic disease
2025

The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.

Hormones (Athens, Greece)
2024

[Primary hyperoxaluria: results of a retrospective survey of the diagnostic practices of nephrologists].

Nephrologie &amp; therapeutique
2024

Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.

Kidney international reports
2025

Bilateral Exudative Retinal Detachments due to Primary Hyperoxaluria in a Child.

Ophthalmology. Retina
2024

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.

Nephrology (Carlton, Vic.)
2025

Importance of genetic study in primary hyperoxaluria type1. Case report.

Medicina clinica
2025

Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.

Pediatric nephrology (Berlin, Germany)
2024

Unveiling primary Hyperoxaluria type 1: a fortuitous discovery through bone marrow biopsy.

Oxford medical case reports
2024

Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.

Renal failure
2024

[Genetics in nephrology - any news?].

Deutsche medizinische Wochenschrift (1946)
2024

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.

Kidney international reports
2024

Oxygen control in bioreactor drives high yield production of functional hiPSC-like hepatocytes for advanced liver disease modelling.

Scientific reports
2024

Lipid nanoparticle-mediated base-editing of the Hao1 gene achieves sustainable primary hyperoxaluria type 1 therapy in rats.

Science China. Life sciences
2024

Diet-induced hyperoxaluria: A case based mini-review.

Clinical nephrology. Case studies
2025

Efficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

Simultaneous or sequential kidney-liver transplantation in primary hyperoxaluria.

Journal of nephrology
2024

A patent review of lactate dehydrogenase inhibitors (2014-present).

Expert opinion on therapeutic patents
2024

Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 30-month analysis of the phase 3 ILLUMINATE-B trial.

Frontiers in pediatrics
2024

Tracking Selective Internalization and Intracellular Dynamics of Modified Chitosan Polymeric Micelles of Interest in Primary Hyperoxaluria Diseases.

ACS omega
2024

Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.

Clinical toxicology (Philadelphia, Pa.)
2024

Infant primary hyperoxaluria type 1: A case report and literature review.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2024

Late-onset retinal oxalosis in primary hyperoxaluria type 2.

American journal of ophthalmology case reports
2024

Hot Hearts on Bone Scintigraphy Are Not All Amyloidosis: Hyperoxaluria-Associated Cardiomyopathy.

Clinical nuclear medicine
2025

Luminescence-based complementation assay to assess target engagement and cell permeability of glycolate oxidase (HAO1) inhibitors.

Biochimie
2024

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.

Kidney diseases (Basel, Switzerland)
2024

Nedosiran population pharmacokinetic and pharmacodynamic modelling and simulation to guide clinical development and dose selection in patients with primary hyperoxaluria type 1.

British journal of clinical pharmacology
2024

[Kidney involvement in rare hereditary diseases].

Terapevticheskii arkhiv
2024

The Evolving Role of Genetic Testing in Monogenic Kidney Stone Disease: Spotlight on Primary Hyperoxaluria.

The Journal of urology
2025

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.

Pediatric nephrology (Berlin, Germany)
2024

Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1: Results from a Phase III Clinical Trial.

Kidney international reports
2024

[Clinical analysis of seven cases of primary hyperoxaluria type 1].

Zhonghua nei ke za zhi
2025

Unilateral Crystalline Ischemic Retinopathy Secondary to Primary Hyperoxaluria with Renal Failure and Oxalosis.

Klinische Monatsblatter fur Augenheilkunde
2024

4-hydroxy-2-oxoglutarate metabolism in a mouse model of Primary Hyperoxaluria Type 3.

Biochemistry and biophysics reports
2024

Primary hyperoxaluria: Long-term outcomes of isolated kidney versus simultaneous liver/kidney transplant.

Journal of pediatric gastroenterology and nutrition
2024

Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.

Pediatric transplantation
2024

The Yield of Genetic Testing in Management of Nephrolithiasis.

Urology
2024

Management of urinary stones: state of the art and future perspectives by experts in stone disease.

Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica
2024

Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.

Pediatric nephrology (Berlin, Germany)
2024

Multiomics Assessment of the Gut Microbiome in Rare Hyperoxaluric Conditions.

Kidney international reports
2024

Urinary Oxalate Excretion During Pregnancy in Primary Hyperoxaluria Type 1: A Report of 4 Cases.

Kidney medicine
2024

Navigating the Evolving Landscape of Primary Hyperoxaluria: Traditional Management Defied by the Rise of Novel Molecular Drugs.

Biomolecules
2024

Diagnosis and management of primary hyperoxalurias: best practices.

Pediatric nephrology (Berlin, Germany)
2024

Lumasiran treatment in pediatric patients with PH1: real-world data within a compassionate use program in Italy.

Clinical kidney journal
2024

Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.

Clinical kidney journal
2024

Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.

Urolithiasis
2024

Simultaneous Liver Kidney Transplantation in a Primary Type 2 Hyperoxaluria With Corrected TOF and Severe Cardiomyopathy: A Case Report.

Journal of clinical and experimental hepatology
2024

Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3.

Kidney international reports
2024

Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.

Genetic testing and molecular biomarkers
2024

Recurrent disease after pediatric renal transplantation.

Pediatric transplantation
2024

A molecular journey on the pathogenesis of primary hyperoxaluria.

Current opinion in nephrology and hypertension
2024

Restored glyoxylate metabolism after AGXT gene correction and direct reprogramming of primary hyperoxaluria type 1 fibroblasts.

iScience
2024

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2024

Pathophysiology and management of enteric hyperoxaluria.

Clinics and research in hepatology and gastroenterology
2024

How We Treat Primary Hyperoxaluria Type 1.

Clinical journal of the American Society of Nephrology : CJASN
2024

Bone health in children with primary hyperoxaluria type 1 following liver and kidney transplantation.

Frontiers in pediatrics
2024

2023 FDA TIDES (Peptides and Oligonucleotides) Harvest.

Pharmaceuticals (Basel, Switzerland)
2024

Gene editing: a near future for the treatment of genetic kidney diseases.

Kidney international
2024

RNA therapeutics for disorders of excretory system.

Progress in molecular biology and translational science
2024

RNA therapeutics for metabolic disorders.

Progress in molecular biology and translational science
2024

A plain abdominal x-ray may direct the diagnosis of primary hyperoxaluria.

Jornal brasileiro de nefrologia
2024

[Primary hyperoxaluria detected by bone marrow biopsy: A case report].

Annales de pathologie
2024

Primary hyperoxaluria: Description of a new oral finding and review of literature.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2024

Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.

Kidney international reports
2023

Case Report: effect of lumasiran treatment in a late preterm baby with antenatal diagnosis of primary hyperoxaluria type 1.

Frontiers in pediatrics
2024

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

Nephrology (Carlton, Vic.)
2024

Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis.

Clinical journal of the American Society of Nephrology : CJASN
2024

Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.

Pediatric nephrology (Berlin, Germany)
2024

Lumasiran: A Review in Primary Hyperoxaluria Type 1.

Drugs
2024

Late Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and Tumoral Calcinosis: A Case Report and a Literature Review.

Current rheumatology reviews
2024

Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.

FEBS letters
2024

Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.

Journal of inherited metabolic disease
2024

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature.

Clinical case reports
2024

Efficient and safe therapeutic use of paired Cas9-nickases for primary hyperoxaluria type 1.

EMBO molecular medicine
2024

[Primary hyperoxaluria type 1-a rare hereditary metabolic disorder as cause of livedo racemosa].

Dermatologie (Heidelberg, Germany)
2024

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

BMC medical genomics
2023

Pediatric renal lithiasis in Spain: research, diagnostic and therapeutic challenges, and perspectives.

Frontiers in pediatrics
2024

In vivo base editing rescues primary hyperoxaluria type 1 in rats.

Kidney international
2024

Ophthalmic Sequelae of Late-Stage Primary Hyperoxaluria Type 1.

Ophthalmology
2024

The Clinical and Pathological Characteristics of Patients with Oxalate Nephropathy.

Kidney360
2023

Nedosiran: First Approval.

Drugs
2024

Combined liver-kidney transplantation in pediatric patients.

Pediatric transplantation
2023

32-year-old diabetic patient with progressive vision loss and crystalline retinopathy.

Retinal cases &amp; brief reports
2023

Is Genotype the Major Outcome Parameter of Kidney Failure in Patients With Primary Hyperoxaluria Type 1?

Kidney international reports
2023

A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure.

Cureus
2023

Young Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation.

Cureus
2024

Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.

Pediatric nephrology (Berlin, Germany)
2024

Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.

Annals of laboratory medicine
2023

Qualitative assessment of the patient experience of primary hyperoxaluria type 1: an observational study.

BMC nephrology
2023

Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.

Indian journal of nephrology
2023

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.

Urolithiasis
2023

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.

Kidney international reports
2024

Distinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet.

Journal of pediatric urology
2023

Primary hyperoxaluria: a case series.

Journal of medical case reports
2023

Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity.

Genes
2023

Multiplex gene editing reduces oxalate production in primary hyperoxaluria type 1.

Zoological research
2023

Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.

Human mutation
2024

A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2023

Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.

Pharmacological reviews
2023

Late Diagnosis of Primary Hyperoxaluria in an Adult Patient With End-Stage Renal Disease and Bicytopenia.

Cureus
2023

Idiopathic Oxalate Nephropathy Leading to End-Stage Kidney Disease: A Case Report.

Cureus
2023

Safety, Pharmacokinetics, and Exposure-Response Modeling of Nedosiran in Participants With Severe Chronic Kidney Disease.

Clinical pharmacology in drug development
2024

Therapeutic targeting of HYPDH/PRODH2 with N-propargylglycine offers a Hyperoxaluria treatment opportunity.

Biochimica et biophysica acta. Molecular basis of disease
Ver todos os 1.135 no EuropePMC

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
    Journal of inherited metabolic disease· 2026· PMID 41330733mais citado
  2. N-Propargylglycine Restores Survival by Preventing Calcium Oxalate Stone Formation, Tubular Injury, and Kidney Dysfunction in a Lethal Mouse Model of Primary Hyperoxaluria Type 2.
    Kidney international· 2026· PMID 41866121mais citado
  3. Oxalate Nephropathy in a Patient With Chronic Pancreatitis and Recent Surgery: A Clinical Conundrum.
    Kidney medicine· 2026· PMID 41853331mais citado
  4. Genomic testing in pediatric urology: Implications for diagnosis and management.
    Journal of pediatric urology· 2026· PMID 41719821mais citado
  5. Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
    Pediatric nephrology (Berlin, Germany)· 2026· PMID 41703089mais citado
  6. Impact of Ser81 phosphorylation on alanine: glyoxylate aminotransferase associated with Primary hyperoxaluria type I.
    Mol Biomed· 2026· PMID 41979772recente
  7. Novel AAV843 Vector-Mediated Gene Replacement Therapy Rescues Primary Hyperoxaluria Type I in Mice.
    Cells· 2026· PMID 41972717recente
  8. Delayed Diagnosis of Primary Hyperoxaluria and Systemic Oxalosis in a Hemodialysis Patient: A Case Report and Literature Review.
    Cureus· 2026· PMID 41924686recente
  9. Urine microscopy revealing a metabolic disorder: a case report.
    BMC Nephrol· 2026· PMID 41917895recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:416(Orphanet)
  2. MONDO:0002474(MONDO)
  3. GARD:16530(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q7243137(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hiperoxalúria primária
Compêndio · Raras BR

Hiperoxalúria primária

ORPHA:416 · MONDO:0002474
Prevalência
1-9 / 1 000 000
Herança
Autosomal recessive
CID-10
E74.8 · Outros distúrbios especificados do metabolismo de carboidratos
CID-11
Ensaios
13 ativos
Início
All ages
Prevalência
0.2 (Germany)
MedGen
UMLS
C0020500
EuropePMC
Wikidata
Papers 10a
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