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प्रश्न
Short Answer Question.
Write note on –PKU.
टीपा लिहा
उत्तर
- Phenylketonuria is an inborn metabolic disorder caused due to deficiency of phenylalanine hydroxylase enzyme.
- Phenylketonuria is caused due to recessive autosomal genes.
- When recessive genes are present in homozygous condition, phenylalanine hydroxylase enzyme is not produced.
- This enzyme is essential for the conversion of amino acid phenylalanine into tyrosine.
- Due to the absence of this enzyme, phenylalanine is not converted into tyrosine.
- Hence, phenylalanine and its derivatives are accumulated in blood and cerebrospinal fluid (CSF).
- It affects development of the brain and causes mental retardation.
- Excess phenylalanine is excreted in urine, hence this disease is called phenylketonuria.
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संबंधित प्रश्न
Very Short Answer Question.
Give one example of the autosomal recessive disorder.
What is autosomal inheritance? Explain different disorders due to autosomal inheritance.
____________ refers to transmission of body characters other than the sex linked traits from parents to their offsprings through autosomes.
Deficiency of______ enzyme results in phenylketonuria.
Study the following statements with respect to widow's peak and select the correct option.
- Individuals with homozygous recessive (ww) genotype have a straight hair line (no widows peak).
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- It is determined by autosomal dominant gene.
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Write a note on 'Widow's peak?
