Hyperlysinemia I or 2-aminoadipic semialdehyde synthetase. It is called 2-aminoadipic aciduria.
Incidence
More than 15 cases has been reported.
Clinical Characteristics
There are possibly no unique clinical findings, 50 % of probands are asymptomatic. Neurological symptoms include motor and/or mental retardation, seizures, muscular hypotonia, spasticity and hyperreflexia since infancy to adolescence. Ataxia can be present in childhood and adolescence. One patient has subluxation of lens and spherophakia. Laxity of ligaments and small stature may be seen in childhood and adolescence. A benefit from protein restriction has not yet been proven.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Urinary organic acids show 2-aminoadipic aciduria. Quatitative aminoacids in plasma shows increased lysine.