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Old 10-12-2015
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Default Repeated USMLE Questions 130 #usmle

A 4 year old boy is brought to his physician by his mother. She is worried and tells you that her son is weak and not developing properly. He chews his fingers and lips constantly and seems to enjoy it. On examination, there is marked loss of tissues on his fingers and lips. His serum and urine uric acid are elevated.

What is the most likely diagnosis of this condition?

A- Gaucher disease

B- Hurler syndrome

C- Lesch-Nyhan syndrome

D- Galactosemia

E- Tay-sachs disease

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Old 10-13-2015
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c HGPRT Def.enzyme
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The above post was thanked by:
sohag100 (10-13-2015)


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