People with a genetic deficiency of _____ present with hypermethioninemia
#2
Type _____ maple syrup urine disease (MSUD) results from the mutation in the genes encoding dihydrolipoyl transacylase.
#3
What enzyme deficiencies may cause homocystinuria? _____ and methionine synthase deficiencies
#4
Urine FeCl3 test done for PKU detects the presence of _____
#5
_____ may be converted to tyrosine via the enzyme phenylalanine hydroxylase (with tetrahydrobiopterin as a cofactor)
#6
In addition to enzyme deficiencies, homocystinuria may be caused by decreased affinity of _____ for pyridoxal phosphate (B6, active form)
#7
Phenylalanine levels are _____ in a patient of Segawa syndrome, after a phenylalanine loading test (100mg/kg)
#8
pulses are deficient in _____ amino acids
#9
cereals are deficient in _____ amino acids
#10
taurine amino acid is essential for _____
Phenylketonuria and Alkaptonuria Indian Medical PG Flashcards - Medical Study Cards
Master Phenylketonuria and Alkaptonuria 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.
Phenylketonuria and Alkaptonuria Flashcard Deck - 10 Cards
Flashcard 1: People with a genetic deficiency of _____ present with hypermethioninemia
Answer: /-methionine adenosyltransferase
Flashcard 2: Type _____ maple syrup urine disease (MSUD) results from the mutation in the genes encoding dihydrolipoyl transacylase.
Answer: II
Flashcard 3: What enzyme deficiencies may cause homocystinuria? _____ and methionine synthase deficiencies
Answer: Cystathionine synthase
Flashcard 4: Urine FeCl3 test done for PKU detects the presence of _____
Answer: Phenylpyruvate
Flashcard 5: _____ may be converted to tyrosine via the enzyme phenylalanine hydroxylase (with tetrahydrobiopterin as a cofactor)
Answer: Phenylalanine
Flashcard 6: In addition to enzyme deficiencies, homocystinuria may be caused by decreased affinity of _____ for pyridoxal phosphate (B6, active form)
Answer: cystathionine synthase
Flashcard 7: Phenylalanine levels are _____ in a patient of Segawa syndrome, after a phenylalanine loading test (100mg/kg)
Answer: increased
Flashcard 8: pulses are deficient in _____ amino acids
Answer: cysteine and methionine
Extra:
Flashcard 9: cereals are deficient in _____ amino acids
Answer: threonin and lysine
Extra:
Flashcard 10: taurine amino acid is essential for _____
Answer: axonal growth
Extra:
Keywords: Phenylketonuria and Alkaptonuria flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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