Lipid metabolism — Flashcards

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?

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?

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

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 very long chain fatty acids oxidation? -Mitochondria -Rough endoplasmic reticulum -Proteasomes -Lysosomes -Peroxisomes -Golgi Apparatus

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:

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

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?_____