Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

JIMD Reports
Marit SchwantjeGepke Visser

Abstract

The sodium-dependent multivitamin transporter that facilitates the uptake of the water-soluble vitamins biotin, pantothenic acid, and the vitamin-like substance lipoate is coded by the SLC5A6 gene. Variants in this gene cause a relatively novel treatable metabolic disorder. Here we describe the second case. A 17-month-old girl presented with hypoglycemia (2.0 mmol/L) and severe metabolic acidosis (pH 6.87), leading to resuscitation. Her history revealed feeding problems from birth and poor weight gain. Metabolic investigation showed elevated plasma C3-carnitine and C5-OH-carnitine. Urine analysis showed persistently elevated excretion of 3-OH-isovaleric acid. Biochemically, the combination of elevated C5-OH-carnitine and increased excretion of 3-OH-isovaleric acid seemed compatible with biotinidase deficiency. Supplementation with biotin was started. Biotinidase activity in plasma showed only marginally decreased activity, which was considered insufficient explanation for her clinical symptoms. Subsequent trio-based whole exome sequencing revealed compound heterozygosity for variants in the SLC5A6 gene. Upon increasing the dosage of biotin supplementation and introduction of pantothenic acid supplementation, a striking clinical...Continue Reading

References

Jan 1, 1991·Vitamins and Hormones·A G Tahiliani, C J Beinlich
Jun 2, 1998·Free Radical Biology & Medicine·J BustamanteB H Rihn
May 17, 2005·Progress in Lipid Research·Roberta LeonardiSuzanne Jackowski
Aug 12, 2009·Biochimica Et Biophysica Acta·Kate Petersen ShayTory M Hagen
Oct 29, 2010·The Journal of Biological Chemistry·Fernanda Delmondes de Carvalho, Matthias Quick
Oct 18, 2011·Pharmacological Reports : PR·Anna GorącaBeata Skibska
Oct 30, 2012·American Journal of Physiology. Gastrointestinal and Liver Physiology·Abhisek GhosalHamid M Said
Apr 30, 2014·Journal of Inherited Metabolic Disease·Johannes A MayrWolfgang Sperl
Mar 31, 2015·Vitamins and Hormones·Matthias Quick, Lei Shi
May 15, 2015·The Journal of Biological Chemistry·Britta ZehnpfennigMatthias Quick
Aug 6, 2016·American Journal of Physiology. Gastrointestinal and Liver Physiology·Subrata SabuiHamid M Said

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Citations

Aug 2, 2019·American Journal of Physiology. Gastrointestinal and Liver Physiology·Subrata SabuiHamid M Said
Jun 3, 2021·American Journal of Physiology. Gastrointestinal and Liver Physiology·Kalidas RamamoorthyHamid M Said

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Methods Mentioned

BETA
exome sequencing

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