title: Dicarboxylic aciduria in an infant with spinal muscular atrophy.
abstract: A 1-year-old infant with classic Werdnig-Hoffmann disease was found to excrete abnormally large amounts of dicarboxylic acids in both fed and fasting states, with especially notable increases in the longer-chain (C10 and C12) 3-hydroxydicarboxylic acids. Dicarboxylic aciduria has not previously been associated with Werdnig-Hoffmann disease and suggests a primary or secondary defect of fatty acid metabolism in the disorder.
mesh_terms: D003998:Dicarboxylic Acids / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D009133:Muscular Atrophy / Q000652:urine*
chemical_list: D003998:Dicarboxylic Acids