Abstract
We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT).
MeSH terms
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Acute Kidney Injury / complications*
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Exons / genetics
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Gout / complications*
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Humans
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Hypoxanthine Phosphoribosyltransferase / deficiency
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Hypoxanthine Phosphoribosyltransferase / genetics*
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Infant
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Lesch-Nyhan Syndrome / complications
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Lesch-Nyhan Syndrome / diagnosis*
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Lesch-Nyhan Syndrome / genetics*
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Male
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Mutation
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Sequence Deletion
Substances
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Hypoxanthine Phosphoribosyltransferase