10 Questions
Which of the following is a consequence of a defect in the biosynthesis of the cofactor tetrahydrobiopterin (BH4)?
Hyperphenylalaninemia that is responsive to dietary treatment
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)?
Hyperphenylalaninemia that is responsive to dietary treatment
Why is examination of urinary proteins helpful in the diagnosis of cofactor defects?
To identify the specific mutation in PAH gene
What must be given to patients alongside the neurotransmitter precursor L-dopa and 5-hydroxytryptophan if cofactor defects are identified?
BH4 and dietary treatment
What is the main function of the hepatic enzyme phenylalanine hydroxylase (PAH)?
Metabolize phenylalanine to tyrosine
Which of the following is a product of the deamination of phenylalanine?
Phenylketone
In individuals with the autosomal recessive genetic disorder, what level of phenylalanine accumulation is typically observed?
> 600-1200 µmol/L
What is the reduction product of phenylpyruvic acid?
Phenyllactic acid
Which statement best describes Non-PKU mild hyperphenylalaninemia?
Phenylalanine levels between 180 and 600 µmol/L
Which of the following is the glutandine conjugate of phenylacetic acid?
Phenylacetylglutamine
Test your knowledge about phenylketonuria (PKU), an autosomal recessive genetic disorder caused by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). Learn about the mutations in the PAH gene and the metabolic pathways affected by the deficiency.
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