Isolated glycerol kinase deficiency and glycerol intolerance (juvenile condition)
Incidence
Rare. It is a X-linked disease.
Clinical Characteristics
Only males. They have Glycerol intolerance. Periodic episodes of somnolence, vomiting and ketoacidosis. Despite normal mentation, seizures are observed later. Despite hypotonia, CPK is normal. Abnormal EEG reversible, during crisis
Precipitants
Fasting prolonged, or high fat ingestion or intake.
Provocation Tests
none
Diagnostic Procedures
EB-F, EB-W, OB-F, DB-F. Very high hypertriglyceridemia (pseudo), hyperglycerolemia and glyceroluria.