Cytosolic acetoacetyl-CoA thiolase deficiency
Incidence
Very rare. Two patients reported. Never seen in Saudi Arabia.
Clinical Characteristics
Retarded pts., Abn EEG, CT, liver disease. Severe developmental delay, Mental retardation, hypotonia. It should be a very severe progressive encephalopathy.
Precipitants
no
Provocation Tests
Glucose loading (500 mg/kg IV) or Alanine loading (200 mg/kg IV) or feeding fails to suppress ketosis.
Diagnostic Procedures
EB-F, OB-F. EB-liver