Amino acid metabolism and disorders US Medical PG Flashcards - Medical Study Cards
Master Amino acid metabolism and disorders with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Amino acid metabolism and disorders Flashcard Deck - 10 Cards
Flashcard 21: Hartnup disease
Answer:
Extra: increased tryptophan excretion in urine and decreased absorption by gut pellagra unresponsive to tryptophan supplementation AR amino acid transporter of kidneys and intestine
Flashcard 22: G6PD deficiency
Answer:
Extra: inability to detoxify free radicals and oxidizers hemolytic anemia upon infection or exposure to oxidizing agents Heinz bodies and bite cells on peripheral blood smear
black race XR G6P dehydrogenase
Flashcard 23: galactokinase deficiency
Answer:
Extra: galactitol accumulates in cells infantile: cataracts, failure to track objects or develop social smile galactosemia, galactosuria AR galactokinase
Flashcard 24: classic galactosemia
Answer:
Extra: galactitol accumulates and sequesters phosphate needed for other pathways infantile: failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation galactosemia limit galactose and lactose in diet AR galactose-1-phosphate uridyltransferase (GALT)
Flashcard 25: lactase deficiency (lactose intolerance)
Answer: hereditary, age-dependent, or post-gastroenteritis
Extra: bloating, cramps, osmotic diarrhea after dairy meal restrict dairy intake, lactase supplementation
Flashcard 26: What isomer of amino acids are found in proteins?
Answer: L-form only
Flashcard 27: pyruvate dehydrogenase complex (PDC) deficiency
Answer:
Extra: neurologic deficits starting in infancy metabolic acidosis increase intake of ketogenic nutrients (Lysine and Leucine) XR (but variable expressivity, so some female carriers may show mild symptoms) one component of PDH complex
Flashcard 28: s-adenosyl methionine (SAM)
Answer: methyl groups
Flashcard 29: glutamine-PRPP amidotransferase
Answer: de novo purine synthesis
Extra: AMP, IMP, GMP
Flashcard 30: If an enyzme is a carboxylase, what do you know about its function?
Answer: transfers CO2 groups with help of biotin
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