Sodium-dependent multivitamin transporter deficiency (SMVTD) is a recently described inherited metabolic disorder with so far a broad phenotypic spectrum ranging from feeding problems, failure to thrive, metabolic acidosis, and mild to severe neurological deficits. SMVT, encoded by SLC5A6, is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate.
Hauth I, Waterham HR, Wanders RJA, van der Crabben SN, van Karnebeek CDM
タイトル
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, Roy AG, Radhakrishnan P, Alawi M, Rhodes L, Girisha KM, Kang PB, Kutsche K
タイトル
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
