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The recently described clinical spectrum for FAD synthase deficiency has ranged from neonatal-onset, a lethal disease with metabolic myopathy, cardiomyopathy, swallowing, speech difficulties, and respiratory insufficiency, to later-onset, a potentially treatable neuromuscular disorder with lipid storage myopathy, MADD-like metabolic aberrations, and combined respiratory-chain deficiency [34]

PMID 35011559