Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in a continuous spectrum of clinical phenotypes though all include overproduction of uric acid with hyperuricaemia, urate nephrolithiasis and gout. HPRT1 mutations that result in very low or no HPRT enzyme activities are generally associated with the classic Lesch-Nyhan disease (LND) phenotype with intellectual disability, motor handicap and self-injurious behaviour. Mutations that permit a higher residual HPRT activity are seen in some patients with the milder LND variant phenotypes with varying degrees of cognitive, motor handicap and maladaptive behaviour without recurrent self-injury. We present a boy with a LND variant phenotype due to a deletion of exon 5 of HPRT1 predicted to fully abolish HPRT activity. Metabolic analysis confirms lack of significant residual enzyme activity. The boy, currently age 10, presented with hyperuricaemia, hypotonia, developmental delay and extrapyramidal and pyramidal involvement. He has never shown any signs of self-injurious or maladaptive behaviour. This boy is one of the rare cases with a suspected null mutation in HPRT1 that associates with a milder than expected phenotype with lack of self-injurious behaviour.

KEY CLINICAL MESSAGE: HPRT1 mutations that result in very low or no hypoxanthine-guanine phosphoribosyltransferase enzyme activities are generally associated with the classic Lesch-Nyhan disease. This report presents one of the rare cases with a null mutation in the HPRT1 gene that associates with a milder than expected phenotype with lack of self-injurious behaviour.

Original languageEnglish
JournalJIMD Reports
Volume18
Pages (from-to)135-37
ISSN2192-8304
DOIs
Publication statusPublished - 2015

ID: 44914310