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

Vivekananda Bhat, Dhanya Lakshmi Narayanan, Anju Shukla

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article numbere239755
JournalBMJ Case Reports
Volume14
Issue number6
DOIs
Publication statusPublished - 03-06-2021

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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