" /> Glutaric aciduria III - CISMeF





Preferred Label : Glutaric aciduria III;

Symbol : GA3;

CISMeF acronym : GA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ga III; Glutaryl-coa oxidase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 7 open reading frame 10 gene (C7orf10, 609187.0001);

Laboratory abnormalities : Glutaric aciduria; Normal urinary glutarylcarnitine level; Normal urinary 3-hydroxyglutarate level; Normal glutarylglycine level;

Prefixed ID : #231690;

Details


You can consult :


Nous contacter.
01/05/2025


[Home] [Top]

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