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