| Accumulation of pyroglutamic acid (5-oxoproline) in homocystinuria. | |
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MedLine Citation:
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PMID: 7134819 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 12-year-old boy with homocystinuria due to a cystathionine synthetase defect was shown to accumulate large amounts of pyroglutamic acid (pyroglu). In four different urine samples the concentration ranged between 4.1 and 9.7 mol/mol of creatinine. The pyroglu concentration in plasma was 1.6 mmol/l, and in erythrocytes 750 nmol/g cells. Normally only trace amounts are present. The pyroglu levels normalized during treatment with pyridoxine and folic acid. Accumulation of pyroglu has not previously been described in homocystinuria. Homocysteine can replace cysteine as a substrate for gamma-glutamylcysteine synthetase, an enzyme involved in the biosynthesis of glutathione, giving gamma-glutamylhomocysteine. This dipeptide is efficiently split by gamma-glutamylcyclotransferase to pyroglu and homocysteine. This reaction sequence most likely explains the accumulation of pyroglu in our patient. Ten other homocystinuria patients, who all had lower plasma levels of homocysteine, did not accumulate pyroglu. Our patient might either be a new variant, or more likely the pyroglu formation occurs only high levels of homocysteine. |
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Authors:
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O Stokke; S Marstein; E Jellum; S O Lie |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Scandinavian journal of clinical and laboratory investigation Volume: 42 ISSN: 0036-5513 ISO Abbreviation: Scand. J. Clin. Lab. Invest. Publication Date: 1982 Jun |
Date Detail:
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Created Date: 1982-12-18 Completed Date: 1982-12-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0404375 Medline TA: Scand J Clin Lab Invest Country: NORWAY |
Other Details:
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Languages: eng Pagination: 361-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acids
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blood Animals Child Cystathionine beta-Synthase / metabolism Fibroblasts / enzymology Glutathione / blood Guinea Pigs Homocystinuria / urine* Humans Male Methionine / metabolism Pyroglutamate Hydrolase / metabolism Pyrrolidinones / urine* Pyrrolidonecarboxylic Acid / urine* Tissue Extracts / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/Pyrrolidinones; 0/Tissue Extracts; 63-68-3/Methionine; 70-18-8/Glutathione; 98-79-3/Pyrrolidonecarboxylic Acid; EC 3.5.2.-/Pyroglutamate Hydrolase; EC 4.2.1.22/Cystathionine beta-Synthase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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