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;
Origin ID : 612073;
UMLS CUI : C2749864;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)