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

Autor:	Braz, S. V., Benicio, R. A., Tonelli, G. S. S. S., Báo, S. N., Moretti, P. N., Pic‐Taylor, A., Oliveira, S. F., Acevedo, A. C., Costa, I. M. C., Mazzeu, J. F.
Předmět:	VITAMIN B12 deficiency HYPERPIGMENTATION INBORN errors of metabolism OLDER patients INFORMED consent (Medical law)
Zdroj:	Clinical & Experimental Dermatology; Apr2022, Vol. 47 Issue 4, p812-815, 4p, 1 Color Photograph, 1 Black and White Photograph, 1 Chart
Abstrakt:	Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Genetic disorders of cobalamin metabolism caused by variants in the I ABCD4 i or I LMBRD1 i genes should be considered in patients presenting with cutaneous hyperpigmentation. Cr, chromatin; Me, melanosomes; N, nucleus. gl The patient was prescribed Cbl supplementation with intramuscular injections of 1 mg daily for 7 days, then 3 times/week for 3 weeks, then once/month for 3 months; after that, she was switched to oral Cbl tablets 1 mg daily. [Extracted from the article]
Databáze:	Complementary Index
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