An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.
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transcobalamin I deficiency
MONDO:0008659
hereditary intrinsic factor deficiency
MONDO:0009852
Imerslund-Grasbeck syndrome
MONDO:0009853
transcobalamin II deficiency
MONDO:0010149
methylmalonic aciduria and homocystinuria type cblD
MONDO:0010185
methylmalonic acidemia due to transcobalamin receptor defect
MONDO:0013341