Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant

Autor:	S. V. Braz, R. A. Benicio, G. S. S. S. Tonelli, S. N. Báo, P. N. Moretti, A. Pic-Taylor, S. F. Oliveira, A. C. Acevedo, I. M. C. Costa, J. F. Mazzeu
Rok vydání:	2021
Předmět:	Nucleocytoplasmic Transport Proteins Vitamin B 12 Hyperpigmentation Homozygote Mutation Humans ATP-Binding Cassette Transporters Female Vitamin B 12 Deficiency Dermatology
Zdroj:	Clinical and experimental dermatologyReferences. 47(4)
ISSN:	1365-2230
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f407296549bf15b66c3f6c8596022c64 https://pubmed.ncbi.nlm.nih.gov/34958133 Zobrazit plný text záznamu Plný text