Riboflavin-responsive exercise intolerance (RREI) is an autosomal recessive disorder with a neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness, and exercise intolerance. Supplementation with riboflavin, the precursor of flavin adenine dinucleotide (FAD), improves patients' clinical symptoms. It has been reported that mutations in SLC25A32 cause this disease. SLC25A32 encodes the mitochondrial FAD transporter.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H02779 Riboflavin-responsive exercise intolerance
Schiff M, Veauville-Merllie A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C
Title
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
