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Case report
Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect
  1. Vivekananda Bhat,
  2. Dhanya Lakshmi Narayanan and
  3. Anju Shukla
  1. Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India
  1. Correspondence to Dr Anju Shukla; anju.shukla{at}manipal.edu

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.

  • vitamins and supplements
  • genetics
  • genetic screening / counselling

https://doi.org/10.1136/bcr-2020-239755

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    Footnotes

    • Contributors VB drafted the article and helped in data collection. DLN helped in clinical evaluation, data collection and analysis. She also critically revised the article for intellectual content. AS supervised the entire work, including data collection and analysis. She approved the final manuscript.

    • Funding This study was funded by the National Institutes of Health (1RO1HD093570-01A1).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.