TY - JOUR
T1 - Report of rapid diagnosis and precise management of MMADHC- related intracellular cobalamin defect
AU - Bhat, Vivekananda
AU - Narayanan, Dhanya Lakshmi
AU - Shukla, Anju
N1 - Funding Information:
Funding This study was funded by the National Institutes of Health (1RO1HD093570-01A1).
Publisher Copyright:
© 2021 International Union of Crystallography. All rights reserved.
PY - 2021/6/3
Y1 - 2021/6/3
N2 - 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.
AB - 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.
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U2 - 10.1136/bcr-2020-239755
DO - 10.1136/bcr-2020-239755
M3 - Article
C2 - 34083181
AN - SCOPUS:85107646578
SN - 1757-790X
VL - 14
JO - BMJ Case Reports
JF - BMJ Case Reports
IS - 6
M1 - e239755
ER -