A new case of sodium ‐dependent multivitamin transporter defect occurring as a life‐threatening condition responsive to early vitamin supplementation and literature review

ConclusionSMVT deficiency is a vitamin-responsive inborn error of metabolism that can lead to a wide range of symptoms. Increased and isolated excretion of urinary 3-hydroxyisovaleric acid may suggest, in the absence of markedly reduced biotinidase activity, a SMVT deficiency. Prompt supplementation with high doses of biotin and pantothenic acid should be initiated while awaiting results ofSLC5A6 sequencing as this condition may be life-threatening.

Source: Molecular Genetics & Genomic Medicine - February 7, 2024 Category: Genetics & Stem Cells Authors: F. ‐X. Van Vyve, N. Mercier, J. Papadopoulos, C. Heijmans, H. Dessy, O. Monestier, J. P. Dewulf, D. Roland Tags: CLINICAL REPORT Source Type: research