Preferred Label : Methylmalonic aciduria and homocystinuria, cblc type;
Symbol : MAHCC;
CISMeF acronym : MAHCC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Methylmalonic acidemia and homocystinuria, cblc type; Methylmalonic aciduria and homocystinuria, vitamin b12-responsive; Vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase
and homocysteine:methyltetrahydrofolate methyltransferase;
Included titles and symbols : Methylmalonic aciduria and homocystinuria, cblc type, digenic;
Description : Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous
disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels
of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results
in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058)
and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine
synthase (MTR; 156570). Different forms of the disorder have been classified according
to complementation groups of cells in vitro: cblC, cblD (277410), and cblF (277380).
Isolated methylmalonic acidurias have also been classified by complementation groups:
MMA 'mut' (251000) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA
(251100) is caused by mutation in the MMAA gene (607481) on 4q31; and MMA cblB (251110)
is caused by mutation in the MMAB gene (607568) on 12q24.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the MMACHC gene (MMACHC gene 609831.0001);
Laboratory abnormalities : Homocystinuria; Homocysteinemia; Methylmalonic aciduria; Methylmalonic acidemia; Decreased serum methionine; Cystathioninemia; Cystathioninuria; Uremia; Hematuria; Proteinuria; Decreased adenosylcobalamin (AdoCbl); Decreased methylcobalamin (MeCbl); Decreased methionine synthase (MTR, 156570) activity; Decreased methylmalonyl-CoA mutase (MUT, 609058) activity; Normal serum cobalamin; Decreased cobalamin in liver, kidney, and cultured fibroblasts;
Prefixed ID : #277400;
Origin ID : 277400;
UMLS CUI : C1848561;
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