" /> Mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - CISMeF





Preferred Label : Mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);

Symbol : MTDPS5;

CISMeF acronym : MTDPS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related;

Description : Mitochondrial DNA depletion syndrome-5 is an autosomal recessive disorder characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. Laboratory studies often show mild methylmalonic aciduria (Carrozzo et al., 2007). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the succinate-CoA ligase ADP-forming beta-subunit gene (SUCLA2, 603921.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum and CSF lactate; Methylmalonic aciduria, mild; Methylglutaconic aciduria, mild; Increased urinary carnitine esters; Aminoaciduria, intermittent;

Prefixed ID : #612073;

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06/07/2025


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