" /> 3-methylglutaconic aciduria, type V - CISMeF





Preferred Label : 3-methylglutaconic aciduria, type V;

Symbol : MGCA5;

CISMeF acronym : DCMA; MGA5; MGCA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, dilated, with ataxia; Mga, type V; MGA5; DCMA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the E. coli DNAJ subfamily C member 19 gene (DNAJC19, 608977.0001);

Laboratory abnormalities : 3-methylglutaconic aciduria (3-MGC); 3-methylglutaric aciduria (3-MGA); Mildly elevated hepatic enzymes;

Prefixed ID : #610198;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.