methylmalonic aciduria and/or homocystinuria, cblD type
MONDO:0100463Mondo
Findings
No curated finding names methylmalonic aciduria and/or homocystinuria, cblD type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100463), read 2026-09-29. CC BY 4.0.