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Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant
S V Braz1,2, R A Benicio3, G S S S Tonelli4
1Postgraduate Programme in Health Sciences, University of Brasília, Brasília, Brazil.
Abstract:
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
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