/methylmalonic acidemia

methylmalonic acidemia

Rare Disease

MONDO:0002012

Also Known As

methylmalonic aciduriaMETHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiencyMETHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl AMETHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl Bmethylmalonic acidemia, cblA typemethylmalonic acidemia, cblB typemethylmalonic aciduria cblB typemethylmalonic aciduria due to methylmalonyl-CoA mutase deficiencymethylmalonic aciduria mut typemethylmalonic aciduria type cblAmethylmalonic aciduria type cblBmethylmalonic aciduria, mut typemethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA typemethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type

Definition

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.