Acute hypertriglyceridaemic pancreatitis in a pregnant Indian: a new lipoprotein lipase gene mutation
نویسندگان
چکیده
منابع مشابه
Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
متن کاملA new mutation in the human lipoprotein lipase gene causing familial hyperchylomicronaemia.
Lipoprotein lipase plays a major role in the regulation of lipid metabolism. The enzyme acts to hydrolyse triglycerides, providing free fatty acids for energy generation or storage, thus affecting the maturation of circulating lipoproteins. Biochemical and molecular analyses were performed on two siblings of consanguineous Pakistani origin, presenting with hyperchylomicronaemia, which revealed ...
متن کاملFamilial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
متن کاملLipase gene fusion: a new route to chronic pancreatitis
Chronic pancreatitis is characterized by longterm progressive inflammation of the pancreatic gland, leading to permanent deterioration of its structure and to development of malabsorption, debilitating pain and diabetes mellitus. The annual incidence of the disease has been estimated to 5-10 per 100,000 persons in Western countries. The persistent pancreatic inflammation also confers a high ris...
متن کاملA missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated families with the syndrome of familial hyperchylomicronemia. All 10 exons of the LPL gene were amplified from the two probands' genomic DNA by polymerase chain reaction. In family 1 of French descent, direct sequencing of the amplification products revealed that the patient was heterozygous ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of the Royal Society of Medicine
سال: 1998
ISSN: 0141-0768,1758-1095
DOI: 10.1177/014107689809100410