Carbamoyl phosphate synthetase I deficiency presents with _____ NH4+ and hyper-ammonemia
#2
People with a genetic deficiency of _____ present with hypermethioninemia
#3
Type _____ maple syrup urine disease (MSUD) results from the mutation in the genes encoding dihydrolipoyl transacylase.
#4
Hartnup disease is treated with a high-_____ diet and nicotinic acid (niacin)
#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
pulses are deficient in _____ amino acids
#8
cereals are deficient in _____ amino acids
#9
taurine amino acid is essential for _____
#10
breast milk is rich in _____ essential amino acids
Inborn Errors of Amino Acid Metabolism Indian Medical PG Flashcards - Medical Study Cards
Master Inborn Errors of Amino Acid Metabolism 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.
Flashcard 1: Carbamoyl phosphate synthetase I deficiency presents with _____ NH4+ and hyper-ammonemia
Answer: increased
Flashcard 2: People with a genetic deficiency of _____ present with hypermethioninemia
Answer: /-methionine adenosyltransferase
Flashcard 3: Type _____ maple syrup urine disease (MSUD) results from the mutation in the genes encoding dihydrolipoyl transacylase.
Answer: II
Flashcard 4: Hartnup disease is treated with a high-_____ diet and nicotinic acid (niacin)
Answer: protein
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: pulses are deficient in _____ amino acids
Answer: cysteine and methionine
Extra:
Flashcard 8: cereals are deficient in _____ amino acids
Answer: threonin and lysine
Extra:
Flashcard 9: taurine amino acid is essential for _____
Answer: axonal growth
Extra:
Flashcard 10: breast milk is rich in _____ essential amino acids
Answer: cysteine and taurine
Extra:
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Inborn Errors of Amino Acid Metabolism Flashcards for NEET-PG
Study 10 flashcards on Inborn Errors of Amino Acid Metabolism for NEET-PG Biochemistry. These active recall cards cover the key concepts, clinical associations, and high-yield facts from this chapter of Amino Acid Metabolism. Each card is designed to test your understanding rather than just recognition, building stronger and more durable memories for exam day.
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There are 10 flashcards for Inborn Errors of Amino Acid Metabolism, covering the key concepts, clinical correlations, and high-yield facts from this chapter of Amino Acid Metabolism.
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