Article
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
Mitochondrion - 1 Sept 2014
Carrozzo Rosalba, Torraco Alessandra, Fiermonte Giuseppe, Martinelli Diego, Di Nottia Michela, Rizza Teresa, Vozza Angelo, Verrigni Daniela, Diodato Daria, Parisi Giovanni, Maiorana Arianna, Rizzo Cristiano, Pierri Ciro Leonardo, Zucano Stefania, Piemonte Fiorella, Bertini Enrico, Dionisi-Vici Carlo
Abstract excerpt
Dihydrolipoamide dehydrogenase (DLD, E3) is a flavoprotein common to pyruvate, α-ketoglutarate and branched-chain α-keto acid dehydrogenases. We found two novel DLD mutations (p.I40Lfs*4; p.G461E) in a 19 year-old patient with lactic acidosis and a complex amino- and organic aciduria consistent with DLD deficiency, manifesting progressive exertional fatigue. Muscle biopsy showed mitochondrial proliferation and...
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