| Two Japanese brothers with hereditary gamma-glutamyl transpeptidase deficiency. | |
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MedLine Citation:
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PMID: 15702405 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on two Japanese brothers with hereditary deficiency in gamma-glutamyl transpeptidase. The propositus was 48 years old when he first visited our medical center and had a 51-year-old brother. The brothers were both tall and slender and had long limbs; the younger was diagnosed as having Marfan syndrome. Both patients both showed a tendency to retarded mental development. gamma-Glutamyltranspeptidase activity was below the detection limit of 1 IU/L in both patients. Glutathionaemia and glutathionuria were evident in both brothers. The analyses of sulphydryl compounds in the plasma (and serum for certain test items) and urine indicated high concentrations of glutathione, gamma-glutamylcysteine, cysteine and cysteinylglycine. Urine amino acid analysis on an automatic analyser showed a slightly increased excretion of cystine and a large peak in the citrulline position due, at least in part, to thio-compounds. |
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Authors:
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M Iida; T Yasuhara; H Mochizuki; H Takakura; T Yanagisawa; H Kubo |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 28 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2005 |
Date Detail:
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Created Date: 2005-02-09 Completed Date: 2005-06-07 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 49-55 Citation Subset: IM |
Affiliation:
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Laboratory, Saitama Cardiovascular and Respiratory Center, Saitama, Japan. a0135785@pref.saitama.lg.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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diagnosis,
genetics Amino Acids / urine Borohydrides / chemistry Chromatography, High Pressure Liquid Cysteine / metabolism Dipeptides / chemistry Family Health Glutathione / metabolism, urine Humans Japan Male Marfan Syndrome / complications Middle Aged Siblings Time Factors gamma-Glutamyltransferase / biosynthesis, deficiency* |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/Borohydrides; 0/Dipeptides; 52-90-4/Cysteine; 70-18-8/Glutathione; 70555-24-7/cystinylglycine; EC 2.3.2.2/gamma-Glutamyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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