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Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.

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Title: Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Authors: Signolet, Isabelle, Chenouard, Rachel, Oca, Florine, Barth, Magalie, Reynier, Pascal, Denis, Marie-Christine, Simard, Gilles
Source: Pediatrics. Sep2016, Vol. 138 Issue 3, pe1-e5. 5p.
Subjects: Hemolytic anemia diagnosis, Enzymes, Glutathione, Hemolysis & hemolysins, Hemolytic anemia, Hyperbilirubinemia, Inborn errors of metabolism, Disease complications, Children
Abstract: Hemolytic anemia (HA) of the newborn should be considered in cases of rapidly developing, severe, or persistent hyperbilirubinemia. Several causes of corpuscular hemolysis have been described, among which red blood cell enzyme defects are of particular concern. We report a rare case of red blood cell enzyme defect in a male infant, who presented during his first months of life with recurrent and isolated neonatal hemolysis. All main causes were ruled out. At 6.5 months of age, the patient presented with gastroenteritis requiring hospitalization; fortuitously, urine organic acid chromatography revealed a large peak of 5-oxoproline. Before the association between HA and 5-oxoprolinuria was noted, glutathione synthetase deficiency was suspected and confirmed by a low glutathione synthetase concentration and a collapse of glutathione synthetase activity in erythrocytes. Moreover, molecular diagnosis revealed 2 mutations in the glutathione synthetase gene: a previously reported missense mutation (c.[656A>G]; p.[Asp219Gly]) and a mutation not yet described in the binding site of the enzyme (c.[902T>C]; p.[Leu301Pro]). However, 15 days later, a control sample revealed no signs of 5-oxoprolinuria and the clinical history discovered administration of acetaminophen in the 48 hours before hospitalization. Thus, in this patient, acetaminophen exposure allowed the diagnosis of a mild form of glutathione synthetase deficiency, characterized by isolated HA. Early diagnosis is important because treatment with bicarbonate, vitamins C and E, and elimination of trigger factors are recommended to improve long-term outcomes. Glutathione synthetase deficiency should be screened for in cases of unexplained newborn HA. [ABSTRACT FROM AUTHOR]
Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
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  Data: <searchLink fieldCode="DE" term="%22Hemolytic+anemia+diagnosis%22">Hemolytic anemia diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Enzymes%22">Enzymes</searchLink><br /><searchLink fieldCode="DE" term="%22Glutathione%22">Glutathione</searchLink><br /><searchLink fieldCode="DE" term="%22Hemolysis+%26+hemolysins%22">Hemolysis & hemolysins</searchLink><br /><searchLink fieldCode="DE" term="%22Hemolytic+anemia%22">Hemolytic anemia</searchLink><br /><searchLink fieldCode="DE" term="%22Hyperbilirubinemia%22">Hyperbilirubinemia</searchLink><br /><searchLink fieldCode="DE" term="%22Inborn+errors+of+metabolism%22">Inborn errors of metabolism</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+complications%22">Disease complications</searchLink><br /><searchLink fieldCode="DE" term="%22Children%22">Children</searchLink>
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  Data: Hemolytic anemia (HA) of the newborn should be considered in cases of rapidly developing, severe, or persistent hyperbilirubinemia. Several causes of corpuscular hemolysis have been described, among which red blood cell enzyme defects are of particular concern. We report a rare case of red blood cell enzyme defect in a male infant, who presented during his first months of life with recurrent and isolated neonatal hemolysis. All main causes were ruled out. At 6.5 months of age, the patient presented with gastroenteritis requiring hospitalization; fortuitously, urine organic acid chromatography revealed a large peak of 5-oxoproline. Before the association between HA and 5-oxoprolinuria was noted, glutathione synthetase deficiency was suspected and confirmed by a low glutathione synthetase concentration and a collapse of glutathione synthetase activity in erythrocytes. Moreover, molecular diagnosis revealed 2 mutations in the glutathione synthetase gene: a previously reported missense mutation (c.[656A>G]; p.[Asp219Gly]) and a mutation not yet described in the binding site of the enzyme (c.[902T>C]; p.[Leu301Pro]). However, 15 days later, a control sample revealed no signs of 5-oxoprolinuria and the clinical history discovered administration of acetaminophen in the 48 hours before hospitalization. Thus, in this patient, acetaminophen exposure allowed the diagnosis of a mild form of glutathione synthetase deficiency, characterized by isolated HA. Early diagnosis is important because treatment with bicarbonate, vitamins C and E, and elimination of trigger factors are recommended to improve long-term outcomes. Glutathione synthetase deficiency should be screened for in cases of unexplained newborn HA. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1542/peds.2015-4324
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      – Code: eng
        Text: English
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        PageCount: 5
        StartPage: e1
    Subjects:
      – SubjectFull: Hemolytic anemia diagnosis
        Type: general
      – SubjectFull: Enzymes
        Type: general
      – SubjectFull: Glutathione
        Type: general
      – SubjectFull: Hemolysis & hemolysins
        Type: general
      – SubjectFull: Hemolytic anemia
        Type: general
      – SubjectFull: Hyperbilirubinemia
        Type: general
      – SubjectFull: Inborn errors of metabolism
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      – SubjectFull: Disease complications
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      – SubjectFull: Children
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    Titles:
      – TitleFull: Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
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              Text: Sep2016
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              Y: 2016
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