Dibasicaminoaciduria I.
Incidence
Autosomal recessive.
Clinical Characteristics
Dibasicaminoaciduria type I presents as profound mental retardation without hyperammonemia or protein intolerance. Patients may have malabsorption syndrome in 80% of times. Heterozygotes have a modest dibasicaminoaciduria.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Aminoacids in urine, quantitative. Normal ammonia in blood.