Hydroxylysinuria
Incidence
It is a rare disease, autosomal recessive condition. Has been described in only six patients associated with hydroxylysinemia.
Clinical Characteristics
All patients have mental retardation and neurological symptoms. Mental retardation has been present since infancy to adolescence. The patients may have generalized and/or myoclonic seizures, myoclonus, speech disturbance and/or hyperactivity. Free hydroxylysine is elevated in urine. It may be normal or elevated in plasma in childhood and adolescence. The total hydroxylysine in urine is normal. An enzyme defect has not been established. There is a presumed hydroxylysinekinase deficiency.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Free hydroxylysine is elevated in urine. It may be normal or elevated in plasma in childhood and adolescence. The total hydroxylysine in urine is normal. An enzyme defect has not been established. There is a presumed hydroxylysinekinase deficiency.