asmi
Forum Hero
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* what is the cause?
* what r the symptoms?
* how do you diagnose it ?
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| alice8
Forum Guru
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:arrow: HGPRT deficiency (X-linked recessive)
:arrow: Frequently the first symptom is the presence of orange-colored crystal-like deposits (orange sand,increased levels of uric acid in urine) in the diapers of affected infants.Self mutilation,kidney stones, blood in the urine, pain and swelling of the joints, dysphagia , vomiting, renal failure , irritability, hypotonia, uncontrolled spastic muscle movements, athetosis, chorea . Moderate mental retardation .
:arrow: Detecting uric acid levels in serum and urine,measurement of HPRT enzyme activity in blood or tissue,identifying a molecular genetic mutation in the HPRT gene
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| asmi
Forum Hero
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thankyou very much alice
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