Methylmalonic aciduria and/or homocystinuria, cblD type

MONDO:0100463

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.

13 clinical trials for this condition and its sub-types, 0 tagged with Methylmalonic aciduria and/or homocystinuria, cblD type itself.

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↑ Inborn disorder of cobalamin metabolism and transport (3)

Sub-types of Methylmalonic aciduria and/or homocystinuria, cblD type

Methylmalonic aciduria and homocystinuria type cblD 2 trials
Methylcobalamin deficiency type cblDv1 0 trials
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 0 trials

Including sub-types (13) Tagged with Methylmalonic aciduria and/or homocystinuria, cblD type (0)

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