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hepatic triglyceride lipase absence
Epidemiology: rare disorder
Genetics: recessive inheritance
Clinical manifestations:
-> xanthomas
Laboratory:
1) elevated serum cholesterol
2) elevated serum triglycerides
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
References
Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 211