Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9-10
pubmed:dateCreated
2002-4-3
pubmed:abstractText
Deficiency of hypoxanthine phosphoribosyltransferase (HPRT) has a broad spectrum of clinical manifestations, from the complete enzyme defect, the Lesch-Nyhan syndrome with severe neurological deficiency to the partial defect associated only with uric acid overproduction and its consequences. We present a 5-year old boy with Lesch-Nyhan syndrome. He came to our hospital because of abdominal pain, vomiting and gross haematuria. At the age of 8 months he was categorized as a "cerebral palsy" patient due to involuntary movements and high degree of spastically and tonic spasms. He remained incapable of sitting or standing alone. The patient's brother and two uncles were also categorized as "cerebral palsy" cases and died at the age of 8-14 years. Clinical examination revealed hyperuricaemia and hyperuricosuria, radiolucent renal and urinary bladder stones. HPRT enzyme activity was totally absent, while adenine phosphoribosyl transferase activity was increased compared to control. The patient was treated with allopurinol, urinary alkalization, low-purine diet and adequate hydration while he was in hospital. However, his parents refused further treatment and follow-up. The most important issue is whether the healthy sisters of the patients are heterozygotes for HPRT deficiency. This DNA analysis is now in progress.
pubmed:language
srp
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0370-8179
pubmed:author
pubmed:issnType
Print
pubmed:volume
129
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
260-3
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:articleTitle
[The Lesch-Nyhan syndrome].
pubmed:affiliation
University Children's Hospital, Belgrade.
pubmed:publicationType
Journal Article, English Abstract, Case Reports