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Titolo:
Long-term clinical outcome in patients with glutathione synthetase deficiency
Autore:
Ristoff, E; Mayatepek, E; Larsson, A;
Indirizzi:
Karolinska Inst, Huddinge Univ Hosp, Dept Pediat, S-14186 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-14186 diat, S-14186 Stockholm, Sweden Univ Heidelberg, Childrens Hosp, Div Metab & Endocrine Dis, D-6900 Heidelberg, Germany Univ Heidelberg Heidelberg Germany D-6900 is, D-6900 Heidelberg, Germany
Titolo Testata:
JOURNAL OF PEDIATRICS
fascicolo: 1, volume: 139, anno: 2001,
pagine: 79 - 84
SICI:
0022-3476(200107)139:1<79:LCOIPW>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
BIOLOGICAL SAMPLES; HEMOLYTIC-ANEMIA; VITAMIN-E; GENE; 5-OXOPROLINURIA; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Ristoff, E Karolinska Inst, Huddinge Univ Hosp, Dept Pediat, S-14186 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-14186 86 Stockholm, Sweden
Citazione:
E. Ristoff et al., "Long-term clinical outcome in patients with glutathione synthetase deficiency", J PEDIAT, 139(1), 2001, pp. 79-84

Abstract

Objective: The objective was to determine the long-term clinical outcome and the effects of treatment of patients with glutathione synthetase (GS) deficiency (n=28). Methods: The diagnosis was based on demonstration of a marked decrease in GS activity in erythrocytes or cultured fibroblasts in all patients and wassupported by finding a decrease in erythrocyte or fibroblast glutathione, presence of 5-oxoprolinuria, or both. The treatment varied but usually included correction of acidosis and supplementation with vitamins C and/or E. Results: Sixteen patients were severely affected with neurologic symptoms such as seizures and psychomotor retardation; 7 had died at the time of thestudy. None of the severely affected patients had been treated with both vitamins C and E from the neonatal period. No significant difference was found in GS activity between patients with or without neurologic symptoms or in erythrocyte or fibroblast glutathione levels. Five patients had recurrentbacterial infections. Conclusion: On the basis of clinical symptoms, patients with GS deficiencycan be classified into 3 phenotypes: mild, moderate, and severe. Our results indicate that early supplementation with vitamins C and E may improve the long-term clinical outcome.

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Documento generato il 06/04/20 alle ore 21:52:47