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Methylmalonic aciduria and homocystinuria type cblD

MONDO:0010185

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

Also known as: cblD defect, cobalamin D defect, cobalamin d disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, methylmalonic aciduria and homocystinuria type cblD, methylmalonic aciduria with homocystinuria, type cblD, MAHCD, cblD - cobalamin locus d

23 clinical trials for this condition and its sub-types, 2 tagged with Methylmalonic aciduria and homocystinuria type cblD itself.

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