Dicarboxylic aminoaciduria. Glutamate-aspartate transport defect.
Incidence
Autosomal recessive. Less than 10 cases reported.
Clinical Characteristics
Teijema et al. (1974) described a female child with a defect in renal and probably intestinal transport of two acidic amino acids, glutamic and aspartic acids. The patient also had moderate hyperprolinemia. Hypoglycemia was a feature. Melancon et al. (1977) reported a 38-month-old male infant with large amounts of the dicarboxylic amino acids, aspartic and glutamic, in the urine without generalized aminoaciduria and without neurologic and developmental abnormalities. The patient was found soon after birth by routine screening. Intestinal transport and in vitro oxidation of dicarboxylic amino acids suggested that the basic defect was selective, one of renal conservation. The authors found a report of dicarboxylicaminoaciduria and associated fasting hypoglycemia and mental retardation. In a later study in which 500 mentally retarded children were screened for amino acid disorders, Swarna et al. (1989) found 1 case of dicarboxylicaminoaciduria in a girl.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Aminoacids in urine and blood quantitative.