Steatorrhoea with increased triglycerides seen in deficiency of: (PGI Dec 2006)
Ans; C (Lipoprotein lipase deficiency) Lipoprotein lipase deficiency' leads to hypertriglyceridemia and hyperchyiomicronemia.Hypertriglyceridemia can cause pancreatistis that leads to steatorrhea.Familial Chylomi crone mia Syndrome (Type ) Hyperlipoproteinemia ; Lipoprotein Lipase and Apo C - II Deficiency) Harrison 17th/2421In these disorders, called familial chylomicronemia syndromes, fasting triglyceride levels are almost invariably >1000 mg/ dL. Fasting cholesterol levels are also usually elevated but to a much lesser degree. LPL deficiency' has autosomal recessive inheritance and has a frequency of approximately 1 in 1 million in the population. Apo C-II deficiency is also recessive in inheritance pattern and is even less common than LPL deficiencyBoth LPL and apo C-II deficiency usually present in childhood with recurrent episodes of severe abdominal pain due to acute pancreatitis"Quantitatively, steatorrhea is defined as stool fat exceeding the normal 7 g/d; rapid-transit diarrhea may result in fecal fat up to 14 g/d; daily fecal fat averages 15-25 g with small intestinal diseases and is often >32 g with pancreatic exocrine insufficiency. Intraluminal maldigestion, mucosal malabsorption, or lymphatic obstruction may produce steatorrhea"-:Harrison 17th/250Hepatic Lipase Deficiency Harrison 17th/2421HL is a member of the same gene family as LPL and hydrolyzes triglycerides and phospholipids in remnant lipoproteins and HDLs. HL deficiency is a very rare autosomal recessive disorder characterized by elevated plasma levels of cholesterol and triglycerides (mixed hyperlipidemia) Table : Harrison 17th/2419 Frederickson Classification of HyperlipoproteinemiasPhenotypeIIIaIIbIIIIVVLipoprotein, elevatedChylomicronsLDLLDL and VLDLChylomicron and VLDL remnantsVLDLChylomicrons and VLDLTriglycerides++++--++++ to +++++++++Cholesterol+ to +++++++ to +++++ to +++-- to +++ to +++LDL-cholesterol HDL-cholesterol+++++++++++++Plasma appearanceLactescentClearClearTurbidTurbidLactescentXanthomasEruptiveTendon, tuberousNonePalmar, tuberoerup- tiveNoneEruptivePancreatitis+++0000+++Coronary athe rosclerosis0++++++++++/-+/-Peripheral atherosclerosis0+++ ++/-+/-Molecular defectsLPL and apoC-IILDL receptor, ApoB- 100, PCSK9, ARH, ABCG5 and ABCG8UnknownApoEApoA-V and UnknownApoA-V and UnknownGenetic nomenclatureFCSFH, FDB. ADH, ARH, sitosteroiemiaFCHLFDBLFHTGFHTGNote: LPL, lipoprotein lipase; apo. apolipoprotein; PCS, familial chylomicrortemia syndrome. FH. familial hypercholesterolemia: FDB. familial defective apoB: ARH. aulosomai recessive hypercholesterolemia; ADH, autosomal dominant hypercholesterolemia; FCHL. familial combined HLAlso Remember:Triacylglycerol undergoes hydrolysis by a hormone-sensitive lipase to form free fatty acids and glycerol. This lipase is distinct from lipoprotein lipase, which catalyzes lipoprotein triacylglycerol hydrolysis before its uptake into extrahepatic tissues.Hormone-sensitive lipase is activated by ACTH, TSH, glucagon, epinephrine, norepinephrine, and vasopressin and inhibited by insulin, prostaglandin PS, and nicotinic acid,Lingual lipase in saliva,Gastric lipase in gastric juice.Pancreatic lipase in pancreatic juice.Intestinal lipase in intestinal epithelial cell,Adipolytic lipase in adipose tissue, andSerum lipase.Pancreatic Lipase#Pancreatic lipase is essential for absorption of dietary fats in small intestine-Warper 28th/460#It deficiency definciency cause Steatorrhea, but hypertriglyuceridemia is unlikelyAcetyl Co A carboxylase is enzyme for lipogenesisQ- Harper 28th/196"Succinate thiokinase is a enzyme of TCA cycle"- Harper 28th/145Serum Lipase is marker of acute pancreatitis- Harper 28th/59
Pancreatic lipase
Serum lipase
Lipoprotein lipase
Acetyl CoA carboxylase
Cholesterol and Lipoproteins