inherited organic acidemia methylmalonic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is 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. DOID:14749 GARD:0007033 ICD10:E71.120 ICD9:270.7 METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B MONDO:0002012 NCIT:C98986 SCTID:42393006 UMLS:C0268583 UMLS:C1855119 methylmalonic acidemia, cblA type methylmalonic acidemia, cblB type methylmalonic aciduria methylmalonic aciduria cblB type methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type methylmalonic aciduria type cblA methylmalonic aciduria type cblB methylmalonic aciduria, mut type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type