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Questions and Answers
Which of the following is a consequence of a defect in the biosynthesis of the cofactor tetrahydrobiopterin (BH4)?
Which of the following is a consequence of a defect in the biosynthesis of the cofactor tetrahydrobiopterin (BH4)?
What is the characteristic feature of the rarer form of the disease when there is a defect in the biosynthesis of the cofactor tetrahydrobiopterin (BH4)?
What is the characteristic feature of the rarer form of the disease when there is a defect in the biosynthesis of the cofactor tetrahydrobiopterin (BH4)?
Why is examination of urinary proteins helpful in the diagnosis of cofactor defects?
Why is examination of urinary proteins helpful in the diagnosis of cofactor defects?
What must be given to patients alongside the neurotransmitter precursor L-dopa and 5-hydroxytryptophan if cofactor defects are identified?
What must be given to patients alongside the neurotransmitter precursor L-dopa and 5-hydroxytryptophan if cofactor defects are identified?
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What is the main function of the hepatic enzyme phenylalanine hydroxylase (PAH)?
What is the main function of the hepatic enzyme phenylalanine hydroxylase (PAH)?
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Which of the following is a product of the deamination of phenylalanine?
Which of the following is a product of the deamination of phenylalanine?
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In individuals with the autosomal recessive genetic disorder, what level of phenylalanine accumulation is typically observed?
In individuals with the autosomal recessive genetic disorder, what level of phenylalanine accumulation is typically observed?
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What is the reduction product of phenylpyruvic acid?
What is the reduction product of phenylpyruvic acid?
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Which statement best describes Non-PKU mild hyperphenylalaninemia?
Which statement best describes Non-PKU mild hyperphenylalaninemia?
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Which of the following is the glutandine conjugate of phenylacetic acid?
Which of the following is the glutandine conjugate of phenylacetic acid?
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