" /> Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) - CISMeF





Preferred Label : Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria);

Symbol : MTDPS9;

CISMeF acronym : MTDPS9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactic acidosis, fatal infantile;

Description : Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by Rouzier et al., 2010). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha subunit of succinate-coenzyme A ligase (SUCLG1, 611224.0001);

Laboratory abnormalities : Methylmalonic aciduria; Increased lactate in spinal fluid;

Prefixed ID : #245400;

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27/07/2025


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