Q:

A 6-year-old boy with eczematoid rash, abnormal face, and prominent maxilla complains from deterioration in school performance

Anwaar
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2022-09-11
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A 6-year-old boy with eczematoid rash, abnormal face, and prominent maxilla complains from deterioration in school performanc, hyperactivity, and seizures for the last 2 years. Of the following, the MOST likely enzymatic deficiency is

  1. acid B-glucosidase
  2. B-hexosaminidases
  3. acid sphingomyelinase
  4. phenylalanine hydroxylase
  5. fumaryiacetoacetate hydrolase
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Anwaar
2022-09-11
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(D). Phenylketonurea is the most likely diagnosis; deficiency of the enzyme phenylalanine hydroxylase (PAH) or of its cofactor tetrahydrobiopterin (BH4) causes accumulation of phenylalanine in body fluids and in the brain

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