5‐Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

Divry, P.; Roulaud-Parrot, F.; Dorche, C.; Zabot, M. T.; Contraire, B.; Hagenfeldt, Lars; Larsson, Agne

doi:10.1007/bf01811698

Cited by 12 publications

(2 citation statements)

References 8 publications

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“…En font partie la ciprofloxacine, la nétilmicine et la vigabatrine [5,7]. Des défauts génétiques de la 5-oxoprolinase peuvent déclencher une acidose, en particulier chez les nouveau-nés [11].…”

Section: Discussionunclassified

Lorsque l’antibiotique provoque une dyspnée

Fischer,

Amrein,

Weirauch

et al. 2024

Swiss Med Forum

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Section: Discussionunclassified

Lorsque l’antibiotique provoque une dyspnée

Fischer,

Amrein,

Weirauch

et al. 2024

Swiss Med Forum

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“…Early diagnosis and treatment is thought to correlate with a better long term outcome. If a neonate presents with hemolytic anemia and metabolic acidosis, it is important to consider GSSD 14 , as rapidly fatal GSSD in newborns has been described 15 . Advanced diagnostic techniques such as antenatal diagnosis can be made by measuring 5-oxoproline in amniotic fluid 16 , 17 or a presumptive diagnosis can be made by detecting elevation of 5-oxoproline in newborn screen blood spots using tandem mass-spectrometry 18 .…”

Section: Discussionmentioning

confidence: 99%

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency

et al. 2016

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Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impairment. Lifelong treatment with antioxidants has been recommended in an attempt to prevent morbidity and mortality associated with the disorder. Here we present a 19-year-old female who was diagnosed with glutathione synthetase deficiency shortly after birth and who has been closely followed in our metabolic clinic. Despite an initial severe presentation, she has had normal intellectual development and few complications of her disorder with a treatment regimen that includes polycitra (citric acid, potassium citrate and sodium citrate), vitamin C, vitamin E and selenium.

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Prenatal diagnosis of glutathione synthase deficiency

Manning

Davies²,

Olpin³

et al. 1994

Prenatal Diagnosis

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Prenatal diagnosis for glutathione synthase (EC 6.3.2.3) deficiency in two pregnancies of an at-risk couple was performed on amniotic fluid taken at 16 weeks' gestation. 5-Oxoproline (pyroglutamic acid) levels were 970 and 790 mumol/l compared with the normal mean value of 29 mumol/l (range 13-51 mumol/l). The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other, post-mortem tissue samples failed to grow.

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5‐Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

Cited by 12 publications

References 8 publications

Lorsque l’antibiotique provoque une dyspnée

Lorsque l’antibiotique provoque une dyspnée

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency

Prenatal diagnosis of glutathione synthase deficiency

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