Questions and Answers
Individuals with phenylketonuria (PKU) always show symptoms at birth.
False
Untreated phenylketonuria can lead to failure to walk and talk.
True
PKU patients have an excess of tyrosine.
False
Low intelligence quotient in PKU patients is associated with low thyroid hormones.
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Mental retardation in PKU patients is primarily due to the overwhelming of the LNAA carrier system by excess phenylalanine.
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Individuals with phenylketonuria (PKU) have a deficiency in tyrosine, leading to hypopigmentation and impairment of melanin synthesis.
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Decrease in the level of tyrosine downstream products leads to neurological manifestations in PKU patients.
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A decrease in the level of L-thyroxine will lead to low IQ in PKU patients.
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Excess phenylalanine in PKU patients overwhelms the LNAA carrier system, leading to impaired entry of other important amino acids into the CNS.
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Alkaptonuria is caused by an absence or deficiency of homogentisic acid oxidase
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The accumulation of homogentisic acid in the blood and tissues leads to darkening of urine in alkaptonuria patients
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The black pigmentation in collagenous tissue and cartilage in alkaptonuria patients is due to the polymerization and binding of oxidized homogentisic acid
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Study Notes
Phenylketonuria (PKU)
- Untreated PKU can lead to severe symptoms, including failure to walk and talk.
- PKU patients have an excess of tyrosine, which leads to low intelligence quotient (IQ) due to low thyroid hormones.
- Mental retardation in PKU patients is primarily caused by the overwhelming of the LNAA carrier system by excess phenylalanine.
- Deficiency in tyrosine leads to hypopigmentation and impairment of melanin synthesis.
- Decrease in tyrosine downstream products causes neurological manifestations in PKU patients.
- Excess phenylalanine overwhelms the LNAA carrier system, leading to impaired entry of other important amino acids into the CNS.
Alkaptonuria
- Alkaptonuria is caused by an absence or deficiency of homogentisic acid oxidase.
- Accumulation of homogentisic acid in blood and tissues leads to darkening of urine in alkaptonuria patients.
- Black pigmentation in collagenous tissue and cartilage is due to polymerization and binding of oxidized homogentisic acid.
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