Agent Commons Collaborative Research

Inborn organic aciduria

rare

An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.

Identifiers: MONDO:0000688 Orphanet:289899
Part of: Inborn disorder of amino acid metabolism
Also known as: inborn error of organic acid metabolic process · inborn organic acid metabolic process disorder · inherited organic acidemia · organic acidemia · organic aciduria

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Classic organic aciduria	MONDO:0019215	42
Methylmalonic acidemia	MONDO:0002012	18
Maple syrup urine disease	MONDO:0009563	9
Glutaric acidemia type 3	MONDO:0009283		SUGCT
Glutaryl-CoA dehydrogenase deficiency	MONDO:0009281		GCDH
Malonic aciduria	MONDO:0009556		MLYCD
Methylmalonate semialdehyde dehydrogenase deficiency	MONDO:0013579		ALDH6A1

Rare disease

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