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 for traumatic injury. - She is incidentally found to have an abnormal 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: c. ACTH Cells with highly developed smooth endoplasmic reticulum (SER) are characteristic of tissues that synthesize steroids, cholesterol, and lipids (e.g., adrenal cortex, gonads, liver). Ectopic adrenal tissue (adrenal rests) is a common incidental finding in the abdomen and is stimulated by ACTH. - PTH: Regulates calcium; protein-secreting cells (parathyroid) use Rough ER. - Progesterone/Aldosterone: These are steroid hormones themselves, not trophic stimulators. - Dopamine: Inhibits prolactin release.

Flashcard 257: 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 258: A patient presents with hypoketotic hypoglycemia triggered by fasting. - What is the most likely enzyme deficiency? - Which substances have deficient synthesis in this patient?

Answer: 1. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 2. Ketone bodies (e.g., acetoacetate) MCAD deficiency is the most common fatty acid oxidation disorder. It results in an inability to oxidize fatty acids into acetyl-CoA, leading to impaired ketogenesis and gluconeogenesis during fasting.

Flashcard 259: 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 260: Accumulation of the following presents with what disease? - Cerebroside sulfate - Galactocerebroside - Globotriaosylceramide - Glucocerebroside - GM2 ganglioside - Sphingomyelin

Answer: - Cerebroside sulfate: Metachromatic leukodystrophy (peripheral neuropathy and ataxia) - Galactocerebroside: Krabbe disease - Globotriaosylceramide: Fabry disease - Glucocerebroside: Gaucher disease - GM2 ganglioside: Tay-Sachs disease - Sphingomyelin: Niemann-Pick disease