A doença de Niemann-Pick tipo A é um tipo muito grave da doença de Niemann-Pick. É uma doença genética rara, passada de pais para filhos, que afeta os lisossomos (pequenas estruturas dentro das células). Os sintomas geralmente surgem em bebês ou crianças pequenas e incluem dificuldade para crescer e ganhar peso, aumento do fígado e do baço, e problemas neurológicos que pioram rapidamente.
Introdução
O que você precisa saber de cara
A doença de Niemann-Pick tipo A é um tipo muito grave da doença de Niemann-Pick. É uma doença genética rara, passada de pais para filhos, que afeta os lisossomos (pequenas estruturas dentro das células). Os sintomas geralmente surgem em bebês ou crianças pequenas e incluem dificuldade para crescer e ganhar peso, aumento do fígado e do baço, e problemas neurológicos que pioram rapidamente.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Converts sphingomyelin to ceramide (PubMed:12563314, PubMed:1840600, PubMed:18815062, PubMed:25339683, PubMed:25920558, PubMed:27659707, PubMed:33163980). Exists as two enzymatic forms that arise from alternative trafficking of a single protein precursor, one that is targeted to the endolysosomal compartment, whereas the other is released extracellularly (PubMed:20807762, PubMed:21098024, PubMed:9660788). However, in response to various forms of stress, lysosomal exocytosis may represent a major
LysosomeLipid dropletSecretedSecreted, extracellular space
Niemann-Pick disease A
An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B.
Variantes genéticas (ClinVar)
486 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Deficiência de esfingomielinase ácida neurovisceral da infância
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
Ensaios em destaque
🟢 Recrutando agora
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
Mostrando amostra de 109 publicações de um total de 729
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatment outcomes in Taiwanese patients. We retrospectively reviewed nine ASMD cases in Taiwan, including genetic data and responses to olipudase alfa. Newborn screening data using the NeoLSD MS/MS kit for dried blood spot enzyme activity, followed by lyso-sphingomyelin and molecular testing, were also analysed. The SMPD1 c.1497_1498inv variant was found in 62.5% of alleles among chronic neurovisceral ASMD cases, while c.995C > G appeared in 37.5% of chronic visceral ASMD cases and was also frequent in partial ASMD from newborn screening. Four patients received olipudase alfa; Patient 1, treated for 3 years starting at age 41, showed improved pulmonary function despite persistent thrombocytopenia and splenomegaly. Patients 2, 6, and 7, treated from early childhood, exhibited marked improvements in hepatosplenomegaly, interstitial lung disease, and growth within 1 year of therapy. This study highlights distinct genotype-phenotype correlations in ASMD and supports the clinical benefits of olipudase alfa. Increased awareness and early diagnosis, potentially through newborn screening, are essential for optimizing outcomes in ASMD.
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease characterized by hepatosplenomegaly, pulmonary dysfunction, dyslipidemia, and growth deficits. Olipudase alfa (recombinant-human ASM) is the only treatment for non-central-nervous-system ASMD manifestations in children and adults. An open-label long-term study followed 4 to 8 years of olipudase alfa treatment in 20 children and adolescents with ASMD (baseline age (years) 1.5-17.5). At final assessments, splenomegaly and hepatomegaly were reduced relative to baseline (mean percent decrease in spleen and liver volumes 78% ± 1.2% and 59.8% ± 1.5%, respectively). Baseline splenomegaly was severe (spleen volume > 15 MN [multiples of normal]) or moderate (5-15 MN) (n = 12 and n = 8, respectively) versus mild/absent (< 5 MN) (n = 12) or moderate (n = 8) at final assessment. Baseline hepatomegaly was severe (liver volume > 2.5 MN) (n = 10) or moderate (1.25-2.5 MN) (n = 10) versus mild/absent (< 1.25 MN) (n = 19) or moderate (n = 1) at final assessment. Among nine individuals able to perform assessments, diffusing capacity of the lung for carbon monoxide (DLCO) impairment was severe (< 40%) (n = 1), moderate (40%-60%) (n = 4), or mild (60%-80%) (n = 4) at baseline versus absent (n = 4), mild (n = 4) or moderate (n = 1) at final assessment. Mean percent increase in DLCO was 53.7% ± 6.5%. At baseline, 10/20 children had clinical short stature (height Z-scores ≤ - 2) at baseline versus 0/20 at the final assessment. Atherogenic lipid profiles and liver function tests normalized within 2 years and remained stable. Adverse events were mostly mild or moderate, with 4 individuals experiencing 7 serious adverse events, all recovered/resolved. Interpretation: Enzyme replacement therapy with olipudase alfa in children and adolescents with chronic ASMD was well-tolerated with clinically meaningful improvements in multiple disease parameters. Trial Registration: NCT02004704.
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
Acid sphingomyelinase deficiency (ASMD) is an ultra-rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations of the chronic visceral subtype are variable and encompass different degrees of hepatosplenomegaly, pulmonary disease and dyslipidemia. The aim of this study was to provide insights into the natural course of adult patients with the chronic visceral subtype. Based on these insights, we proposed tentative criteria for initiation and follow-up of enzyme replacement therapy (ERT). The data of 23 adult patients were collected in a prospective study. Clinical, genetic and demographic data, plasma measurements, abdominal imaging, pulmonary imaging, pulmonary function tests and quality of life questionnaires were collected. Stability of disease based on several clinical, biochemical and radiological markers (i.e., spleen volume, platelet levels, liver volume, alanine aminotransferase [ALT] levels, diffusion capacity of the lungs for carbon monoxide [DLCO] chitotriosidase activity and lysosphingomyelin [LSM]) was assessed. Cardiovascular risk was estimated based on sex, age, smoking, systolic blood pressure and lipid profile. Quality of life was evaluated with the 36-Item Short Form Health Survey and the Health Assessment Questionnaire. Median follow-up was 6.1 years (range 1.3-19.5 years). The most common manifestations were splenomegaly (100%), decreased high-density lipoprotein cholesterol (HDL-C) plasma levels (83%), (signs of) steatosis measured with transient elastography (82%), thrombocytopenia (64%), hepatomegaly (52%) and decreased diffusion capacity (45%). The majority of markers remained stable during follow-up. Twelve patients showed progression of disease: four for spleen volume, two for liver volume, three for DLCO, seven for chitotriosidase activity and three for LSM. One patient showed progression of disease based on four markers, although this patient did not report any problems at the last visit. Cardiovascular risk was estimated and was increased in half of the patients older than 40 years. Patient-reported quality of life did not differ from the general population, but differences in median 36-Item Short Form Health Survey (SF-36) scores of patients with severe pulmonary involvement and those of patients without pulmonary involvement were observed. Tentative criteria for initiation and effect of therapy were proposed. In conclusion, the chronic visceral subtype of ASMD showed a predominantly stable disease course in this cohort. We propose that ERT should be initiated on an individual basis and only in case of progression or symptomatic disease. Collection and analysis of real world data are necessary to refine start, stop and follow-up criteria in the future.
Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.
Niemann-Pick Disease (NPD) types A and B are lysosomal storage disorders resulting from dysfunction or loss of acid sphingomyelinase (aSMase), which hydrolyzes sphingomyelin (SM) to ceramide and phosphocholine. Patients with NPD-A develop severe neurologic and visceral pathology and rarely live beyond the age of 3 years, while patients with NPD-B typically live to adolescence/early adulthood without neurologic involvement. There are currently no therapies for NPD-A. SMPD1, the gene that encodes aSMase, gives rise to two distinct enzymes - lysosomal sphingomyelinase (L-SMase) and secretory sphingomyelinase (S-SMase), with the latter being associated with inflammation and chemokine amplification. This study sought to define the role of secretory-deficient aSMase variants in NPD. Human NPD fibroblasts transfected with wildtype or two aSMase variants demonstrated that serine residues at either position 507 or 508 in human aSMase retained L-SMase yet lacked S-SMase activity, basally and in response to inflammatory stimuli. We next generated a novel mouse model harboring the S505A variant (aSMaseS505A), corresponding to S507A in humans, in the endogenous Smpd1 gene. Mice expressing the S505A variant of aSMase retained L-SMase activity and tissue SM levels in the brain but lacked S-SMase activity in serum. ASMaseS505A mice were protected from NPD physiology and pathophysiology including accumulation of foam cells in the spleen, liver and cerebellum, as well as loss of Purkinje cells. Moreover, aSMase-/- mice demonstrated significantly decreased locomotor control and this was prevented in aSMaseS505A mice. Together, these studies suggest a retention of L-SMase may serve to pave the way for ERT in NPD.
Current and Emerging Treatments for Acid Sphingomyelinase Deficiency.
Acid sphingomyelinase deficiency is an ultra-rare disease characterised by generalised storage of sphingomyelin, caused by deficiency of the lysosomal enzyme acid sphingomyelinase, owing to the presence of biallelic pathogenic variants in the SMPD1 gene. The main disease manifestations are in the liver, spleen, lung and bone - with some patients having also involvement of the central nervous system. Patients show variable degrees of anaemia, thrombocytopenia and lipid abnormalities, among other findings. Clinically, acid sphingomyelinase deficiency spans from an acute neurovisceral form, with neurological involvement and early death (type A), to a chronic visceral disease, with no or minimal neurological manifestations (type B). An intermediate form, with chronic neurovisceral involvement, is presented by some patients (type A/B). Diagnosis involves the measurement of biomarkers, an assay of enzyme activity and genetic testing. Until a few years ago, treatment was mainly dependent on symptomatic management and bone marrow or solid organ (liver and/or lung) transplantation. In 2022, a specific enzyme replacement therapy with olipudase alfa was approved, and the results available indicate that it changed the therapeutic landscape for patients with acid sphingomyelinase deficiency type B and A/B. Research is being developed to address the needs of patients with acid sphingomyelinase deficiency type A, with gene therapy remaining as a promising approach.
Publicações recentes
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.
A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.
Molecular and histological characterizations reveal two distinct senescent microglia populations in Niemann-Pick disease type C mouse model.
Zuclopenthixol inhibits residual activity of acid sphingomyelinase in Niemann pick disease type B: a case report with in vitro validation.
A scalable human-zebrafish xenotransplantation model reveals gastrosome-mediated processing of dying neurons by human microglia.
📚 EuropePMCmostrando 107
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
Molecular genetics & genomic medicineRetention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.
Neurobiology of diseaseCurrent and Emerging Treatments for Acid Sphingomyelinase Deficiency.
DrugsLong-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
Journal of inherited metabolic disease[Acid sphingomyelinase deficiency: A review].
La Revue de medecine interneAcid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.
Molecular genetics and metabolismNatural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
Journal of inherited metabolic diseaseA retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
Orphanet journal of rare diseasesAlkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis.
World journal of gastroenterologyThe Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
BiomoleculesThe Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study.
In vivo (Athens, Greece)Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Orphanet journal of rare diseasesNeurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice.
Progress in neuro-psychopharmacology & biological psychiatryAdenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Virchows Archiv : an international journal of pathologyApolipoprotein-mimetic nanodiscs reduce lipid accumulation and improve liver function in acid sphingomyelinase deficiency.
Nanomedicine : nanotechnology, biology, and medicineAcid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
International journal of molecular sciencesScreening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
Orphanet journal of rare diseasesGlycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
Molecular genetics and metabolismEffect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier.
Drug delivery and translational researchModulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
International journal of molecular sciencesOlipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use.
Clinical drug investigationEllagic acid and its metabolites urolithins A/B ameliorate most common disease phenotypes in cellular and mouse models for lysosomal storage disorders by enhancing extracellular vesicle secretion.
Neurobiology of diseaseOlipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
Orphanet journal of rare diseasesImportance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Molecular genetics and metabolismConsensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Orphanet journal of rare diseasesSphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency.
Cell death & diseaseUnexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency.
Disease models & mechanismsSMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
HereditasHealthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis.
Advances in therapyAcid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Internal and emergency medicineNovel breakthrough in the treatment of sphingomyelinase deficiency.
International journal of surgery (London, England)Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Orphanet journal of rare diseasesNeurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Genetics in medicine : official journal of the American College of Medical GeneticsSimilarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.
European journal of internal medicineQuantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Orphanet journal of rare diseasesCompound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
The American journal of case reportsIntravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial.
Molecular genetics and metabolismPhenotypic expression of swallowing function in Niemann-Pick disease type C1.
Orphanet journal of rare diseasesHealth insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice.
Orphanet journal of rare diseasesMassive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A.
Journal of molecular neuroscience : MNOlipudase Alfa: First Approval.
DrugsA 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree.
Journal of pediatric endocrinology & metabolism : JPEMNeonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
BMC gastroenterologyA randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genetics in medicine : official journal of the American College of Medical GeneticsAcid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
Journal of clinical medicineAtherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?
Journal of clinical lipidologySeverely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1.
BloodPeripheral neuropathy as a very rare symptom in a patient with Niemann-Pick type C with negative enzymatic evaluation: a case report.
Journal of medical case reportsImportance of Disease Recognition and Proper Disease Nomenclature for Patients With Acid Sphingomyelinase Deficiency (Historically Known as Niemann-Pick Types A or B) With a Disease-Specific Treatment on the Horizon.
Clinical pediatricsAcid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism.
International journal of molecular sciencesPlasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.
Molecular genetics and metabolism reportsFunctional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Human mutationProspective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
Orphanet journal of rare diseasesInterstitial lung disease in lysosomal storage disorders.
European respiratory review : an official journal of the European Respiratory SocietyOne-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Genetics in medicine : official journal of the American College of Medical GeneticsClinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Human mutationAltered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency.
American journal of respiratory cell and molecular biologyChanges in PCSK 9 and apolipoprotein B100 in Niemann-Pick disease after enzyme replacement therapy with olipudase alfa.
Orphanet journal of rare diseasesPeriodontal condition and treatment in a patient with rare systemic condition: A case report for acid sphingomyelinase deficiency.
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 DentistryInhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling.
EMBO molecular medicineApolipoprotein D-mediated preservation of lysosomal function promotes cell survival and delays motor impairment in Niemann-Pick type A disease.
Neurobiology of diseaseCombined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).
The American journal of case reportsAutopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report.
Molecular genetics and metabolism reportsClinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Molecular genetics and metabolismFinding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions.
Biochimica et biophysica acta. Molecular basis of diseaseNovel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
GeneAn induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene.
Stem cell researchBiochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Molecular genetics and metabolismAn Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
The Tohoku journal of experimental medicineAcid sphingomyelinase deficiency exacerbates LPS-induced experimental periodontitis.
Oral diseasesA novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency.
Pediatric dermatologyAdeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A.
Science translational medicineSolving the secretory acid sphingomyelinase puzzle: Insights from lysosome-mediated parasite invasion and plasma membrane repair.
Cellular microbiologyAn induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene.
Stem cell researchNiemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Annals of hepatologyδ-Tocopherol Effect on Endocytosis and Its Combination with Enzyme Replacement Therapy for Lysosomal Disorders: A New Type of Drug Interaction?
The Journal of pharmacology and experimental therapeuticsNiemann-Pick Type A Disease: Behavior of Neutral Sphingomyelinase and Vitamin D Receptor.
International journal of molecular sciencesAcid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationChronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Orphanet journal of rare diseasesDefects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease.
Skeletal muscleLipid-induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders.
The EMBO journalRecommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Molecular genetics and metabolismDeep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report.
Journal of medical case reportsUtility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.
Clinical biochemistryThe impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Clinica chimica acta; international journal of clinical chemistryBurden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
JIMD reportsOlipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
Journal of inherited metabolic diseaseLimited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyConsensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Genetics in medicine : official journal of the American College of Medical GeneticsQuantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
Analytical biochemistry[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
La Revue de medecine interneCathepsin S contributes to microglia-mediated olfactory dysfunction through the regulation of Cx3cl1-Cx3cr1 axis in a Niemann-Pick disease type C1 model.
GliaMorphology of Niemann-Pick type A metabolic storage disorder.
BloodSphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease.
Molecular psychiatryTypes A and B Niemann-Pick Disease.
Pediatric endocrinology reviews : PERInduced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A.
Stem cells translational medicineClearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.
The American journal of surgical pathologyCause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Molecular genetics and metabolismExcess sphingomyelin disturbs ATG9A trafficking and autophagosome closure.
AutophagySeven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.
European journal of medical geneticsSMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Human mutationEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
PloS oneAlleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
International journal of molecular sciencesSuccessful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.
Molecular genetics and metabolismAltered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery.
Molecular pharmaceuticsNovel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
Genetics in medicine : official journal of the American College of Medical GeneticsFour novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).
International journal of molecular sciencesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Deficiência de esfingomielinase ácida neurovisceral da infância.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Deficiência de esfingomielinase ácida neurovisceral da infância
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
- Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
- Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
- Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.
- Current and Emerging Treatments for Acid Sphingomyelinase Deficiency.
- Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.
- A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.
- Molecular and histological characterizations reveal two distinct senescent microglia populations in Niemann-Pick disease type C mouse model.
- Zuclopenthixol inhibits residual activity of acid sphingomyelinase in Niemann pick disease type B: a case report with in vitro validation.
- A scalable human-zebrafish xenotransplantation model reveals gastrosome-mediated processing of dying neurons by human microglia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:77292(Orphanet)
- OMIM OMIM:257200(OMIM)
- MONDO:0009756(MONDO)
- GARD:7206(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q50349676(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
