Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.
Two siblings are described who present with fumaric aciduria, a hitherto unreported organic aciduria. The results of our analytical investigations using gas chromatography/mass spectrometry, and the clinical presentation of the patients, are consistent with the notion that the fumaric aciduria is caused by an inherited defect which leads to a net secretion of fumaric acid by the renal tubules.
D000328:Adult; D005260:Female; D005650:Fumarates / Q000652:urine*; D006801:Humans; D008607:Intellectual Disability / Q000652:urine*; D008297:Male; D015499:Renal Tubular Transport, Inborn Errors / Q000652:urine*; D013064:Speech Disorders / Q000652:urine*
D005650:Fumarates