COMBANK Random 3 Flashcards
Which enzyme is responsible for the transport of long-chain fatty acids from the mitochondra, and how will pts with deficiency present?
Carnitine palmitoyltransferase; pts with deficiency will present with episodes of muscle pain, stiffness, and tenderness usually during exercises or fasting d/t rhabdomyolysis
Which disease is a debranching enzyme deficiency that is responsible for the breakdown of glycogen and glucose mobilization from the liver and muscle, and how will pts with this deficiency present?
Cori’s disease
-pts with deficiency will present with fasting hypoglycemia and hepatomegaly d/t accumulation of glycogen in the liver but will have normal lactate levels
What does the enzyme acid maltase do?
degrades glycogen to glucose in lysosomes
Which disease presents with an acid maltase deficiency and presents with early death d/t damaged heart, liver, and muscle tissues?
Pompe’s disease
Which enzyme hydrolyzes glucose-6-phosphate to complete gluconeogenesis and glycogenolysis?
glucose-6-phosphatase
Which disease is deficient in glucose-6-phosphatase and how will pts present?
von Gierke’s disease
-pts will present with severe fasting hypoglycemia, hepatomegaly d/t accumulation of glycogen in the liver, and elevated blood lactate
What does the enzyme phosphorylase do?
It releases glucose-1-phosphate from the terminal a-1,4-glycosidic bonds in glycogenolysis
Which disease is a deficiency in liver glycogen phosphorylase and how will these pts present?
Hers’ disease
-Pts will present with mild hypoglycemia, hyperlipidemia, hepatomegaly, and cirrhosis
What diagnostic support can be given for carnitine palmitoyltransferase deficiency?
elevated serum creatine kinase and elevated myoglobin and myoglobinuria (cola-colored urine)
What is diagnostic for Cori’s disease?
elevated dextrin levels
What is diagnostic for Pompe’s disease?
decreased acid maltase levels
What is diagnostic for von Gierke’s disease?
elevated lactate and uric acid levels
What is diagnostic for Hers’ disease?
hypoglycemia and hyperlipidemia
What are the origins of the long and short head of the biceps femoris muscle?
long head: ischial tuberosity and linea alba
short head: lateral supracondylar line of the femur
What is the innervation of the biceps femoris?
long head: tibial branch of sciatic n. (L5-S3)
short head: common peroneal branch of sciatic n. (L5-S2)
What kind of drug is Zidovudine?
aka Azidothymidine (AZT) - nucleoside reverse transcriptase inhibitor (NRTI) used in HIV: it incorporates itself into the growing viral DNA chain
What kind of drug is Efavirenz?
a non-nucleoside reverse transcriptase inhibitor (NNRTI): it does not incorporate itself into the viral DNA chain
What kind of drug is duloxetine and is it safe to use in pregnancy?
SNRI; yes
What is Busprione indicated for and what pregnancy category is it?
generalized anxiety disorder; Category B
What kind of drug is Fluoxetine and what pregnancy category is it?
SSRI used for depression; Category C