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 Triglycerides, serum?

Answer: From 35 to 160 mg/dL

Flashcard 255: What is the normal range of Cholesterol, serum (Recommendation)?

Answer: From 0 to 200 mg/dL

Flashcard 256: A 12 y/o girl is involved in a motor vehicle accident. -Abdominal CT is negative -She's incidentally found to have an abormal intra-abdominal mass. -Biopsy of mass reveals ectopic tissue. -On microscopy, these cells have a highly developed smooth endoplasmic reticulum. -These cells most likely receive stimulation from which of the following agents? a. Parathyroid hormone b. Progesterone c. ACTH d. Aldosterone e. Dopamine

Answer: ACTH because they stimulate steroids hormones, which contain a well-developed smooth Endoplasmin reticulum. (cholesterol & fat) a.) PTH: increased calcium, they do not regulate lipids or cholesterol synthesis. b.) Progesterone: is a steroid hormones. It prepares endometrium for conception & helps maintain new pregnancy. But it will not regulate fat and cholesterol synthesis even tough it contains Smooth ER. d.) They have effect on Na & K regulation not lipids & cholesterol regulation.

Flashcard 257: 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.

Flashcard 258: A 3 y/o girl comes with several months of fatigue and difficulty walking. -Physical examination: Decreased power in all extremities but no ataxia. -Cardiac auscultation: 1/6 systolic murmur & an S3 gallop. -Labs: Glucose 37 mg/dL Creatine kinase 304 U/L (normal XX: 10 - 70) Urinalysis: Protein, glucose, ketones, Leukocyte esterase, nitrites: all Negative -Muscle biopsy: Very low carnitine content. -Which substance has deficient synthesis in this patient's disease?

Answer: Acetoacetate (Ketone bodies) Due to Primary carnitine deficiency (impairs fatty acid transport into mitochondria) Symptoms: Cardiac & skeletal muscle cells injury, and impaired ketone body production by the liver during fasting periods.

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: An 18 month old boy present with neurologic regression. -He developed a gradual regression of developmental milestones such as inability to sit with support. -Poor head control, loss of social smile. -Physical exam: enlarge liver and spleen, hypotonia, lack of deep tendon reflexes in all limbs. -Cherry red spot on fundoscopic exam. The patient most likely has an accumulation of which substrate?

Answer: Sphyngomyelin Due to Niemann pick disease (deficiency of sphyngomyelinase) similar symptoms as Taysach without splenomegaly. splenomegaly is absent in Taysach disease. (accumulation of GM2).