Hawkinsinuria. 4-OH-phenylpyruvic oxidase deficiency.
Incidence
AD inheritance. A rare disorder.
Clinical Characteristics
The disease presents with neurological findings during early to late infancy.These include seizures, hypsarrythmia initially. Later, confused mental state, motor incoordination, ataxia, insensitivity to pain & hypotonia occur. Later MR is observed.
Precipitants
none
Provocation Tests
The administration of DOPA increase tremors in the patient, since he is unable to metabolize dopa.
Diagnostic Procedures
EB-W, EB-F