Journal article
Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment
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.
Authors
Whelan DT; Hill RE; McClorry S
Journal
Clinica Chimica Acta, Vol. 132, No. 3, pp. 301–308
Publisher
Elsevier
Publication Date
August 1983
DOI
10.1016/0009-8981(83)90008-6
ISSN
0009-8981