drpkaur
Forum Guru
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A young mother is contemplating institutionalizing her 3-year-old son. At about the age of 3 months, she first noted accumulation of orange granules in his diapers. The boy then went on to develop various physical problems, including blood in the urine, kidney stones, pain in various joints, and neurologic problems causing dysphagia, muscle weakness, and a variety of involuntary movements. More recently, behavioral problems have become more pronounced. These include compulsiveness, irritability, uncontrollable aggressiveness, and self-mutilation. A deficiency of which of the following is the biochemical basis for his disease?
A. Glucose 6-phosphatase
B. Hypoxanthine guanine phosphoribosyl pyrophosphate transferase
C. Orotate phosphoribosyl transferase
D. Thymine phosphorylase
E. Uridine phosphorylase
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| Leopard
Forum Guru
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B= LNS = HGPRT deficiency
best of luck
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| eytanraz
Forum Newbie
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Posts: 68
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what are the orange granules in the diaper?!?
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| MRMAVERICK
Forum Guru
Topics: 40
Posts: 715
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B
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| drpkaur
Forum Guru
Topics: 195
Posts: 808
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i guess orange granules to be uric acid....wild guess
any others plz explain.
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| Leopard
Forum Guru
Topics: 30
Posts: 401
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That is true:Uric acid crystalls passed in the urine are precipitated as orange granules on the diaper
Best of luck
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