The familial hyperchylomicronemia syndrome: New insights into underlying genetic defects

Journal Article · Wed Feb 20 04:00:00 EST 1991 · JAMA, Journal of the American Medical Association; (United States)

DOI:https://doi.org/10.1001/jama.1991.03460070086049· OSTI ID:5484681

Santamarina-Fojo, S; Brewer, H B ^[1]

---

1. National Inst. of Health, Bethesda, MD (United States)

This case history reports the diagnosis of familial hyperchylomicronemia, a rare genetic syndrome inherited as an autosomal recessive trait. It is characterized by severe fasting hypertriglyceridemia and massive accumulations of chylomicrons in plasma. The two major molecular defects in the disease are a deficiency of lipoprotein lipase or of apo C-II. The location of the mutations in the human apolipoprotein (apo) C-II gene are identified.

• OSTI ID: 5484681
• Journal Information: JAMA, Journal of the American Medical Association; (United States), Journal Name: JAMA, Journal of the American Medical Association; (United States) Vol. 265:7; ISSN 0098-7484; ISSN JAMAA
• Country of Publication: United States
• Language: English

Related Subjects

550602* -- Medicine-- External Radiation in Diagnostics-- (1980-)
62 RADIOLOGY AND NUCLEAR MEDICINE
AMYLASE
ANIMALS
BIOCHEMISTRY
BODY
CHEMISTRY
DIGESTIVE SYSTEM
DISEASES
ENDOCRINE GLANDS
ENZYMES
ESTERS
GLANDS
GLYCOSYL HYDROLASES
HEREDITARY DISEASES
HYDROLASES
LIPIDS
LIPOPROTEINS
MAMMALS
MAN
MOLECULAR BIOLOGY
MUTATIONS
O-GLYCOSYL HYDROLASES
ORGANIC COMPOUNDS
ORGANS
PANCREAS
PRIMATES
PROTEINS
RECESSIVE MUTATIONS
TRIGLYCERIDES
VERTEBRATES