Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment

  • Clin Chim Acta. 1983 Aug 31;132(3):301-8. doi: 10.1016/0009-8981(83)90008-6.
D T Whelan ,  R E Hill ,  S McClorry
PMID: 6616883 DOI: 10.1016/0009-8981(83)90008-6
Abstract

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.

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