Lipid metabolism — Flashcards

35 y/o man comes with skin lesions on his palms. -Patient has yellowish skin nodules over palmar creases. -It has been increasing in size and number over the past several years. -He has small clusters of yellow papules on his elbows, knees, and buttocks. -Biopsy of skin lesion:accumulation of lipd-laden macrophages. -Lack of ApoE3 & ApoE4 in his circulation lipoproteins. -What is the most likely impaired in this patient?

What are the followings in relation to Carnitine deficiency? -Acetoacetate -Arachidonic acid -Glutathione -Homocysteine -Lactate -Palmitate

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

Accumulation of the followings present with what disease? -Cerebroside sulfate -Galactocerebroside -Globotriaosylceramide -Glucocerebroside -GM2 ganglioside -Sphyngomyelin

72 y/o woman found lying on the floor in her home for the past 2 days. -She felt and unjured her right hip, was unable to get up and call for help. -She did not drink anything during that time. -Physical exam: dehydration, right hip tenderness. -Labs: serum glucose 72 mg/dL & positive urine ketones. -Radiographs: righ femoral neck fracture. -Increased activity of what enzymes is most likely contributing to both the serum & urine lab findings?

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?

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?

Which classes of steroid hormones (2) are decreased in 17-hydroxylase deficiency?_____

What protein is responsible for the rate limiting step in steroidogenesis?_____

What is the mode of inheritance of Niemann Pick disease?_____