Lipid metabolism — Flashcards

Flashcard 251: Anorexia = _____cholesterolemia

Answer: Hyper

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Flashcard 252: _____ Cholesterol or _____ bile salts = ↑ risk of gallstones

Answer: ↑

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Flashcard 253: Characteristics of _____: Hepatosplenomegaly Pancytopenia Bone pain/fractures Failure to thrive and delayed puberty

Answer: Gaucher disease

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Flashcard 254: What is the normal range of Cholesterol, serum (Recommendation)?

Answer: From 0 to 200 mg/dL

Flashcard 255: What is the normal range of Triglycerides, serum?

Answer: From 35 to 160 mg/dL

Flashcard 256: 3 y/o patient present with cherry red pots and loss or motor skills. -Physical exam: no splenomegaly -What is the most likely enzyme deficiency that causes this disease?

Answer: Hexosaminidase A deficiency due to Tay-Sachs disease.

Flashcard 257: What are the followings in relation to very long chain fatty acids oxidation? -Mitochondria -Rough endoplasmic reticulum -Proteasomes -Lysosomes -Peroxisomes -Golgi Apparatus

Answer: Mitochondria: Doesn't metabolize very long chain of fatty acids. -Rough endoplasmic reticulum: site of sythesis of proteins -Peroxisomes: site of synthesis of complex fatty acids, very long chain fatty acids. -Lysosomes: organelles to destroy/degrading fatty acids, proteins, & nucleic acids. -Proteasomes: Also use for degradation. -Golgi Apparatus: Send out proteins to the rest of the body by vesicular transport.

Flashcard 258: Cultured fibroblast taken from an infant suffering from hypotonia & seizures. -It shows an impaired ability to oxidize very long chain fatty acids (VLCFA) & Phytanic acid. -The defect most likely localized to:

Answer: Peroxisomes due to oxidizing very long chain fatty acids & phytanic acid. They usually metabolize in the peroxisomes. Symptoms: neurological symptoms (seizures & hypotonia)

Flashcard 259: A 8 y/o patient present with hypoglycemia and hypoketotic hypoglycemia. -What is the most likely enzymes deficient? -Which substance has deficient synthesis in this patient's disease?

Answer: Acyl CoA dehydrogenase deficiency due to (MCAD) Medium chain acyl CoA dehydrogenase. -Ketone bodies (Acetoacetate) this disease is a milder form of Primary Carnitine deficiency.

Flashcard 260: What are the followings defects in relation to hyperlipoproteinemias -ApoC-2 production -Cholesterol esterification in the blood -Chylomicron remnant uptake by liver cells -LDL particle uptake by hepatocytes -Lipoprotein lipase activity

Answer: ApoC-2 Production: Familial chylomicronemia syndrome. Present with acute pancreatitis & eruptive xanthomas. -Cholesterol esterification in the blood: LCAT (Lecithin-cholesterol acyltransferase). will present with low HDL & high free cholesterol in blood. -Chylomicron remnant uptake by liver cells: Familial dysbetalipoproteinemia. Premature atherosclerosis & palmar xanthomas. Defect in ApoE protein. -LDL particle uptake by hepatocytes: Familial hypercholesterolemia. Premature atherosclerosis with tendon xanthelasma. Defect in LDL receptor. - Lipoprotein lipase activity: Familial chylomicronemia syndrome. High chylomicrons. Present with acute pancreatitis with eruptive xanthomas. Defect in lipoprotein lipase & ApoC-2.