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PYROGLUTAMICACIDURIA [1 record]
Record 1 - internal organization data 2006-01-12
Record 1, English
Record 1, Subject field(s)
- Symptoms (Medicine)
- Endocrine System and Metabolism
Record 1, Main entry term, English
- 5-oxoprolinuria
1, record 1, English, 5%2Doxoprolinuria
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- pyroglutamic aciduria 1, record 1, English, pyroglutamic%20aciduria
correct
- pyroglutamicaciduria 1, record 1, English, pyroglutamicaciduria
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
The phenotypic manifestations that have been described in association with GS [glutathione synthetase deficiency] deficiency include hemolytic anemia(occurring in mild GS deficiency) and 5-oxoprolinuria(pyroglutamicaciduria) and variable degrees of secondary neurological involvement(occurring in systemic GS deficiency). 1, record 1, English, - 5%2Doxoprolinuria
Record 1, French
Record 1, Domaine(s)
- Symptômes (Médecine)
- Systèmes endocrinien et métabolique
Record 1, Main entry term, French
- 5-oxoprolinurie
1, record 1, French, 5%2Doxoprolinurie
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Maladie métabolique héréditaire récessive autosomique caractérisée par l'accumulation et l'excrétion urinaire excessive d'acide pyroglutamique (5-oxoproline), due au défaut de l'activité de la glutathionsynthétase. 2, record 1, French, - 5%2Doxoprolinurie
Record number: 1, Textual support number: 1 CONT
Le déficit en 5-oxoprolinase est une maladie autosomique récessive très rare [...] Le diagnostic est établi par la présence de 5-oxoprolinurie et par la faible activité de la 5-oxoprolinase. 2, record 1, French, - 5%2Doxoprolinurie
Record number: 1, Textual support number: 1 OBS
Elle entraîne une anémie hémolytique chronique et une acidose métabolique, cette dernière pouvant faire défaut. 3, record 1, French, - 5%2Doxoprolinurie
Record 1, Key term(s)
- 5 oxoprolinurie
Record 1, Spanish
Record 1, Textual support, Spanish
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