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Case Reports
. 1983 Aug 31;132(3):301-8.
doi: 10.1016/0009-8981(83)90008-6.

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

D T Whelan, R E Hill, S McClorry
Case Reports

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

D T Whelan et al. Clin Chim Acta. .

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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