The Nucleotide Clinic

Patient III:

Yes !
Patient III suffers from a deficiency of the enzyme Hypoxanthine Guanine PhosphoRibosyl Transferase (HGPRT) and has Lesch-Nyhan Syndrome.

Partial loss of HGPRT activity results in gout, complete or almost complete loss of HGPRT activity results in the Lesch-Nyhan Syndrom (LNS).

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Purine Nucleotide Biosynthesis

Urinalyses: All values are amounts produced in a 24 hr. period; "nd" means not determined; "0" means undetectable by the assay used.
Compound Normal Patient III
Hypoxanthine Guanine
PhosphoRibosy
Transferase
Deficiency
Uric Acid 1 mmole Would you expect uric acid to be
normal, lower than normal,
or higher than normal in this patient?
Adenosine 2 μmole nd
Deoxyadenosine 0 nd
Inosine 0 nd
Deoxyinosine 0 nd
Guanosine 0 nd
Deoxyguanosine 0 nd
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