Methylmalonic acidemia

rare

A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.

Identifiers: MONDO:0002012
Part of: Inborn organic aciduria
Also known as: methylmalonic aciduria

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Methylmalonic aciduria and homocystinuria	MONDO:0016826	6
Vitamin B12-responsive methylmalonic acidemia	MONDO:0017214	3
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	MONDO:0009612	2	MMUT
Combined malonic and methylmalonic acidemia	MONDO:0013661		ACSF3
Isolated methylmalonic aciduria cblD type	MONDO:0700298		MMADHC
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	MONDO:0009615		MCEE
Methylmalonic acidemia due to transcobalamin receptor defect	MONDO:0013341		CD320

Rare disease

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