title: Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
abstract: Glutathione synthetase deficiency (GSSD) is a rare disorder of glutathione metabolism with varying clinical severity. Patients may present with hemolytic anemia alone or together with acidosis and central nervous system impairment. Diagnosis is made by clinical presentation and detection of elevated concentrations of 5-oxoproline in urine and low glutathione synthetase activity in erythrocytes or cultured skin fibroblasts. The prognosis seems to depend on early diagnosis and treatment. We report a 4 months old Tunisian male infant who presented with severe metabolic acidosis with high anion gap and hemolytic anemia. High level of 5-oxoproline was detected in her urine and diagnosis of GSSD was made. Treatment consists of the correction of acidosis, blood transfusion, and supplementation with antioxidants. He died of severe metabolic acidosis and sepsis at the age of 15 months.
authors.affiliation: 1Pediatrics departement, hedi Chaker Hospital, Sfax, Tunisia.
authors.forename: Salma
authors.initials: S
authors.lastname: Ben Ameur
authors.forename: Hajer
authors.initials: H
authors.lastname: Aloulou
authors.forename: Fehmi
authors.initials: F
authors.lastname: Nasrallah
authors.forename: Thouraya
authors.initials: T
authors.lastname: Kamoun
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D000138:Acidosis / Q000150:complications; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D000743:Anemia, Hemolytic / Q000150:complications / Q000175:diagnosis*; D000975:Antioxidants / Q000737:chemistry; D004912:Erythrocytes / Q000201:enzymology; D017809:Fatal Outcome; D005334:Fever / Q000150:complications; D005347:Fibroblasts / Q000201:enzymology; D005981:Glutathione Synthase / Q000172:deficiency* / Q000652:urine*; D006801:Humans; D007223:Infant; D007710:Klebsiella Infections / Q000150:complications; D008297:Male; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*; D018805:Sepsis / Q000150:complications; D012867:Skin / Q000166:cytology; D016896:Treatment Outcome; D014416:Tunisia
chemical_list: D000975:Antioxidants; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid
keywords: gluthatione synthetase; hemolytic anemia; metabolic acidosis