Lipid metabolism — Flashcards

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:

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?

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?

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

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?

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?

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?

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

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

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