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A 10-month-old boy presented with failure to thrive, fever, jaundice, hepatomegaly, and severe rickets

Anwaar
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2022-09-11
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A 10-month-old boy presented with failure to thrive, fever, jaundice, hepatomegaly, and severe rickets. Investigations revealed hypoglycemia and normal anion gap metabolic acidosis. Of the following, the MOST likely enzyme deficiency is

  1. acid B-glucosidase
  2. B-hexosaminidases
  3. acid sphingomyelinase
  4. phenylalanine hydroxylase
  5. fumarylacetoacetate hydrolase
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Anwaar
2022-09-11
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(E). Tyrocinemia type 1 is a severe disease of the liver, kidney, and peripheral nerves are caused by a deficiency of the enzyme fumarylacetoacetate hydrolase.
> acid B-glucosidase ----------------- Gaucher disease
> phenylalanine hydroxylase ------ Phenylketonurea
> acid sphingomyelinase ---- Niemann-pick disease
> fumarylacetoacetate hydrolase ------- Tyrosinemia
> B-hexosaminidases ----------- =-- Tay-Sachs disease

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