Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia
HL Teijema, HH Van Gelderen, MAH Giesberts… - Metabolism, 1974 - Elsevier
HL Teijema, HH Van Gelderen, MAH Giesberts, MSLL de Angulo
Metabolism, 1974•ElsevierA defect in renal transport of the two acidic amino acids, glutamic and aspartic acids, is
described in a 2-yr-old child. The high clearance values, several times in excess of the
creatinine clearance, indicated renal secretion. A study of the intestinal absorption of L-
glutamic acid suggested defective intestinal transport in the patient. The patient also had
moderate hyperprolinemia. One clinical feature of the child appears to be related to the
dicarboxylic aminoaciduria, namely, a marked tendency towards hypoglycemia.
described in a 2-yr-old child. The high clearance values, several times in excess of the
creatinine clearance, indicated renal secretion. A study of the intestinal absorption of L-
glutamic acid suggested defective intestinal transport in the patient. The patient also had
moderate hyperprolinemia. One clinical feature of the child appears to be related to the
dicarboxylic aminoaciduria, namely, a marked tendency towards hypoglycemia.
Abstract
A defect in renal transport of the two acidic amino acids, glutamic and aspartic acids, is described in a 2-yr-old child. The high clearance values, several times in excess of the creatinine clearance, indicated renal secretion. A study of the intestinal absorption of L-glutamic acid suggested defective intestinal transport in the patient. The patient also had moderate hyperprolinemia. One clinical feature of the child appears to be related to the dicarboxylic aminoaciduria, namely, a marked tendency towards hypoglycemia.
Elsevier