Document Detail

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
MedLine Citation:
PMID:  17129743     Owner:  NLM     Status:  MEDLINE    
Partial hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency, also known as the Kelley-Seegmiller syndrome, can give rise to a wide range of neurological symptoms, and renal insufficiency. Biochemically, it is characterized by high uric acid concentrations in blood, high uric acid and hypoxanthine excretion in urine, and decreased activity of hypoxanthine-guanine phosphoribosyl transferase activity (HGPRT). However, normal uric acid concentrations in blood and uric acid excretions in urine have been reported. Here, a boy is presented with normal development and suffering from recurrent attacks of acute renal failure with slightly to clearly increased urinary uric acid excretion. Between these attacks, episodes of elevated urinary excretion of uric acid were observed with normal blood concentrations of uric acid and normal urinary excretion of hypoxanthine. HGPRT activity in erythrocytes, leukocytes, and fibroblasts was found to be strongly decreased. This case shows that not only normal blood uric acid but also normal urinary hypoxanthine concentrations do not exclude the diagnosis of partial HGPRT deficiency.
C M L van Dael; L J W M Pierik; D J Reijngoud; K E Niezen-Koning; O P van Diggelen; F J van Spronsen
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-11-28
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  90     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-01-22     Completed Date:  2007-03-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  221-3     Citation Subset:  IM    
Section of Pediatric Nephrology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.
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MeSH Terms
Hypoxanthine / urine*
Hypoxanthine Phosphoribosyltransferase / deficiency*
Kidney Failure, Acute / etiology
Metabolism, Inborn Errors / diagnosis*,  enzymology*
Reference Values
Uric Acid / blood,  urine
Reg. No./Substance:
68-94-0/Hypoxanthine; 69-93-2/Uric Acid; EC Phosphoribosyltransferase

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