Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.

ABSTRACT: Disorders of intracellular cobalamin metabolism are a group of metabolic disorders that lead to varied clinical presentation from intrauterine life to adulthood. We report a male infant with developmental regression, macrocytic anaemia and hyperpigmentation. Exome sequencing identified a homozygous pathogenic variant in the MMADHC gene, known to cause homocystinuria, cblD type (MIM #277410). We describe significant clinical improvement with targeted therapy and emphasise the relevance of genomic testing in accurate management of inherited metabolic disorders.

SUBMITTER: Bhat V 

PROVIDER: S-EPMC8183291 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature