SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
2016; Massachusetts Medical Society; Volume: 374; Issue: 8 Linguagem: Inglês
10.1056/nejmc1513610
ISSN1533-4406
AutoresManuel Schiff, Alice Veauville‐Merllié, Chen Su, Alexander Tzagoloff, Malgorzata Rak, Hélène Ogier de Baulny, Audrey Boutron, Hélène Smedts-Walters, Norma B. Romero, Odile Rigal, Pierre Rustin, Christine Vianey‐Saban, Cécile Acquaviva,
Tópico(s)Amino Acid Enzymes and Metabolism
ResumoA patient with late-onset exercise intolerance had haploinsufficiency of SLC25A32, which encodes the human mitochondrial flavin adenine dinucleotide transporter. The patient's symptoms were highly responsive to oral supplementation with riboflavin.
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