2-amino/2-oxoadipic aciduria. 2-aminoadipate aminotransferase / 2-oxoadipate dehydrogenase deficiency.
Incidence
Probable autosomal recessive disease.
Clinical Characteristics
There are no unique clinical findings. Patient may have metabolic acidosis in the neonatal period. Clinically, patients may have psychomotor retardation in infancy, childhood or adolescence. Seizures may be present in infancy and childhood. Muscular hypotonia may be present neonatally or in infancy. Ataxia, clumsiness, dysphagia and speech disturbances has been reported in childhood. Some dysmorphism, failure to thrive, edema of hands and feet and cardiac anomalies has been reported in infancy. There seems to be a B cell defect in infancy. In the laboratory, there is an increase of 2-aminoadipate in plasma and urine from the neonatal period through adolescence. There is an increase of 2-oxoadipate in serum in infancy, however, 2-oxoadipate in urine is elevated from infancy through adolescence. 2-hydroxyadipate in urine is elevated in infancy and childhood. The enzyme can be measured in fibroblasts.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F. The enzyme can be measured in fibroblasts. In the laboratory, there is an increase of 2-aminoadipate in plasma and urine from the neonatal period through adolescence. There is an increase of 2-oxoadipate in serum in infancy, however, 2-oxoadipate in urine is elevated from infancy through adolescence. 2-hydroxyadipate in urine is elevated in infancy and childhood.