Peripheral motor neuropathy, childhood-onset, biotin-responsive (COMNB)
Description
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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C63 Disorders of vitamin or non-protein cofactor absorption or transport
H02671 Sodium-dependent multivitamin transporter deficiency
Hauth I, Waterham HR, Wanders RJA, van der Crabben SN, van Karnebeek CDM
Title
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
Title
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
