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Article

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

BMJ case reports - 3 Jun 2021

Bhat Vivekananda, Narayanan Dhanya Lakshmi, Shukla Anju

Abstract excerpt

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...

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Identifiers

PMID: 34083181
DOI: 10.1136/bcr-2020-239755
PMCID: PMC8183291

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