A síndrome da cardiomiopatia, hipotonia e acidose lática é caracterizada por um problema no coração em que o músculo fica mais grosso (cardiomiopatia hipertrófica), músculos fracos e moles (hipotonia muscular) e o excesso de ácido lático no sangue, tudo isso presente desde o nascimento. Ela foi descrita em duas irmãs (ambas faleceram antes de completar o primeiro ano de vida) de uma família turca cujos pais não tinham parentesco próximo. A síndrome é causada por uma alteração genética pontual (mutação) herdada dos dois pais, que ocorre no exon 3A do gene SLC25A3. Esse gene é responsável por produzir uma proteína que funciona como transportador na membrana das mitocôndrias, que são as "usinas de energia" das nossas células.
Introdução
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A síndrome da cardiomiopatia, hipotonia e acidose lática é caracterizada por um problema no coração em que o músculo fica mais grosso (cardiomiopatia hipertrófica), músculos fracos e moles (hipotonia muscular) e o excesso de ácido lático no sangue, tudo isso presente desde o nascimento. Ela foi descrita em duas irmãs (ambas faleceram antes de completar o primeiro ano de vida) de uma família turca cujos pais não tinham parentesco próximo. A síndrome é causada por uma alteração genética pontual (mutação) herdada dos dois pais, que ocorre no exon 3A do gene SLC25A3. Esse gene é responsável por produzir uma proteína que funciona como transportador na membrana das mitocôndrias, que são as "usinas de energia" das nossas células.
Escala de raridade
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1/20kRara
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1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
Inorganic ion transporter that transports phosphate or copper ions across the mitochondrial inner membrane into the matrix compartment (By similarity) (PubMed:17273968, PubMed:29237729). Mediates proton-coupled symport of phosphate ions necessary for mitochondrial oxidative phosphorylation of ADP to ATP (By similarity) (PubMed:17273968). Transports copper ions probably in the form of anionic copper(I) complexes to maintain mitochondrial matrix copper pool and to supply copper for cytochrome C ox
Mitochondrion inner membrane
Mitochondrial phosphate carrier deficiency
An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life.
Variantes genéticas (ClinVar)
29 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 39 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas 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 — Miocardiopatia - hipotonia - acidose láctica
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Radiology case reportsAortic Syndrome in an Elderly Female: A Case of Type A Intramural Hematoma.
Case reports in critical careHigh-frequency oscillatory ventilation with sigh breath increases pneumothorax in neonates born at 22-25 gestational weeks.
BMC pediatricsMetformin abuse and weight loss: A case report.
World journal of clinical casesCannabinoid Hyperemesis Syndrome: A Rare Cause of Severe Abdominal Pain and Hyperlactataemia.
CureusSevere Hypokalemic Paralysis Unmasking Renal Tubular Acidosis in a Patient With Sjögren's Syndrome.
CureusClinical features and outcomes of hyperglycemic hyperosmolar syndrome: a retrospective study at a Japanese university hospital.
Diabetology internationalImpact of Corrected Minute Ventilation on Mortality in Mechanically Ventilated Patients With COVID-19-Related Acute Respiratory Distress Syndrome: A Multicenter, Observational Study Using the J-RECOVER Registry Data.
CureusClinical Benefits of Exogenous Ketosis in Adults with Disease: A Systematic Review.
NutrientsAtypical hemolytic uremic syndrome associated with pregnancy: A case report.
Medicine internationalFrom stroke workup to mitochondrial disease: A case report of MELAS.
Radiology case reportsBiallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Brain communicationsPersonalized Anesthesia Strategies for Cochlear Implantation: Insights on Local Anesthesia From a Single-institution Experience.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyPotential therapeutic benefit of exogenous ketone ester administration in delirium: a narrative review.
Critical care (London, England)When Trimethoprim-Sulfamethoxazole Turns Pernicious: Type 4 Renal Tubular Acidosis in a Diabetic Patient With Sjögren's Syndrome.
CureusOutcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.
Brain communicationsLessons learned from the outbreak: the use of fomepizole in children with acute kidney injury due to ethylene glycol/diethylene glycol poisoning.
BMC pediatricsDKA with negative DM-autoantibodies, complicated by GBS and RESLES: a case report and literature review.
Frontiers in immunologyMesenchymal tumor-induced Fanconi syndrome: A novel classification of Fanconi syndrome.
MedicineThe challenges of managing distal renal tubular acidosis in pregnant patients with primary Sjögren's disease.
BMJ case reportsCase Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.
Frontiers in pediatricsLeigh Syndrome Due to the Variant c.1019T>C in COX15.
Movement disorders clinical practiceFactors Associated with Intubation After Less Invasive Surfactant Administration (LISA); A Single-Center Cohort from Saudi Arabia.
Children (Basel, Switzerland)Wolcott-Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of EIF2AK3 gene.
Journal of pediatric endocrinology & metabolism : JPEMCitrate and calcium kidney stones.
Clinical kidney journalA Novel Mutation of Fanconi-Bickel Syndrome: A Case Report.
The Journal of the Association of Physicians of IndiaPostoperative malignant hyperthermia in a one-year-old girl with down syndrome: a case report.
Journal of anesthesiaA Sudden Expansion: Acute Subdural Hematoma From Extramedullary Acute Myeloid Leukemia.
CureusA Case of Euglycemic Diabetic Ketoacidosis: SGLT2 Inhibitor Complication Triggering Acute Coronary Syndrome and Cardiac Arrest Post Coronary Artery Bypass Grafting (CABG).
CureusL-carnitine: new perspectives on the management of preterm infants.
Frontiers in nutritionTherapeutic Segmental Pulmonary Lavage for Methanol Inhalation Poisoning in a Shrimp Processing Plant Worker: A Novel Approach to Toxic Inhalants.
Journal of investigative medicine high impact case reportsEfficacy Analysis of Sodium Bicarbonate in the Treatment of Shock Patients: A Systematic Review and Meta-Analysis.
Journal of intensive care medicineExploring the Interaction Between Sjögren's Syndrome and Osteoporosis: Pathophysiological Mechanisms and Management Strategies.
International journal of general medicinePreclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.
Brain : a journal of neurologyTenofovir-induced Fanconi syndrome causing type 2 renal tubular acidosis initially mistaken as euglycaemic ketoacidosis.
Internal medicine journalCase Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation.
Frontiers in pediatricsDialysis Disequilibrium Syndrome and Severe Metabolic Acidosis: A Fatal Case.
CureusReduced TIGIT+CD56+NK cells associate with disease progression and impaired immune regulation in primary Sjögren's syndrome.
Clinical rheumatology[A case of multiple organ dysfunction caused by acute glyphosate combined with alcohol poisoning].
Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseasesHypokalemic Periodic Paralysis in a Patient With Primary Sjögren's Syndrome and Distal Renal Tubular Acidosis: A Case Report.
Clinical medicine insights. Case reportsImproved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity.
Molecular therapy. Methods & clinical developmentRetinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.
International journal of ophthalmologyCritical presentation of bradycardia, renal failure, atrioventricular nodal blockade, shock, and hyperkalemia syndrome: A case report.
World journal of clinical casesRetrospective Evaluation of Prognostic Variables and Overall Survival Associated With Nonketotic Hyperosmolar Hyperglycemia in Diabetic Cats: 29 Cases (2000-2020).
Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)Associações
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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.
- Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.
- Congenital cervical neuroblastoma presenting with spontaneous tumour lysis syndrome and severe neonatal airway compromise.
- Refractory Rickets: Evaluation and Management.
- The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.
- Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.
- Phenotypes and follow-up of chronic cow's milk food protein-induced enterocolitis syndrome: A 16-year prospective observational study.
- Exogenous insulin antibody syndrome in type 2 diabetes with diabetic ketoacidosis: A case report and literature review.
- Sudden Death Due To Excited Delirium Syndrome: From Pathophysiology To Postmortem Assessment: Case Reports.
- Physiological alterations and predictors of death in neonatal calves with weak calf syndrome.
- Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:91130(Orphanet)
- OMIM OMIM:610773(OMIM)
- MONDO:0012557(MONDO)
- GARD:16795(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55783767(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
