inborn organic aciduria

Findings

No curated finding names inborn organic aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn disorder of amino acid metabolism

Narrower terms (7)

• classic organic aciduria
• glutaric acidemia type 3
• glutaryl-CoA dehydrogenase deficiency
• malonic aciduria
• maple syrup urine disease
• methylmalonate semialdehyde dehydrogenase deficiency
• methylmalonic acidemia

Resolves to: inborn organic aciduria

Also called

inborn error of organic acid metabolic processinborn organic acid metabolic process disorderorganic acidemiaorganic aciduriarare inborn error of organic acid metabolic process