Glutathione synthetase deficiency

A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.



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Narrow down the case reports



Total: 19 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 29395598
 Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy.
Fakhoury O, Conrath J, Donnadieu B, Warrak R, Matonti F.
J Fr Ophtalmol. 2018;41(2):116-121.
Cystoid macular edema
Administration, Oral Amino Acid Metabolism, Inborn Errors Child Combination Drug Therapy Combined Modality Therapy Diseases in Twins Homo sapiens Male Ophthalmic Solution Retinal Dystrophies Sulfonamides Thiophenes
1
(4.0%)		 29340523
(5769757)
 A case of severe glutathione synthetase deficiency with novel GSS mutations.
Xia H, Ye J, Wang L, Zhu J, He Z.
Braz J Med Biol Res. 2018;51(3):e6853.
Hemolytic anemia
GSS
c|DUP|738|G| p|FS|S|247||
Acidosis Amino Acid Metabolism, Inborn Errors Homo sapiens Infant, Newborn Male Mutation Pyroglutamate Hydrolase Sequence Analysis, DNA
1
(4.0%)		 28267090
 A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S.
J Pediatr Hematol Oncol. 2018;40(1):e45-e49.
Hemolytic anemia
GSS
c|SUB|G|374|A;RS#:748780943 p|SUB|R|125|H;RS#:748780943
Amino Acid Metabolism, Inborn Errors Anemia, Hemolytic Anemia, Hemolytic, Congenital Differential Diagnosis Females Homo sapiens Infant, Newborn Mutation
1
(4.0%)		 27581854
 Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Signolet I, Chenouard R, Oca F, Barth M, Reynier P, Denis MC, Simard G.
Pediatrics. 2016;138(3):.
Hemolytic anemia
GSS
c|SUB|A|656|G;RS#:28938472 c|SUB|T|902|C p|SUB|D|219|G;RS#:28938472 p|SUB|L|301|P
Amino Acid Metabolism, Inborn Errors Anemia, Hemolytic Homo sapiens Infant, Newborn Male
1
(4.0%)		 26984560
(4961564)
 Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Atwal PS, Medina CR, Burrage LC, Sutton VR.
J Hum Genet. 2016;61(7):669-72.
Hemolytic anemia
GSS
Acidosis Amino Acid Metabolism, Inborn Errors Child Child Development Child, Preschool Enzyme Activation Females Follow-Up Studies Homo sapiens Infant Phenotype Severity of Illness Index Young Adult
1
(4.0%)		 26669244
 Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Gunduz M, Unal O, Kavurt S, Turk E, Mungan NO.
J Pediatr Endocrinol Metab. 2016;29(4):481-5.
Intellectual disability
GSS
Acidosis Amino Acid Metabolism, Inborn Errors Females Gas Chromatography-Mass Spectrometry Homo sapiens Infant, Newborn Male Mutation
1
(4.0%)		 25166299
 Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M.
Fetal Pediatr Pathol. 2015;34(1):18-20.
Hemolytic anemia
GSS
Acidosis Amino Acid Metabolism, Inborn Errors Anemia, Hemolytic Antioxidants Erythrocytes Fatal Outcome Fever Fibroblasts Homo sapiens Infant Klebsiella Infections Male Sepsis Skin Tunisia
1
(4.0%)		 19728142
 Diagnosis of glutathione synthetase deficiency in newborn screening.
Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkotter U.
J Inherit Metab Dis. 2009;32 Suppl 1:S269-72.
Acidosis
GSS
Amino Acid Metabolism, Inborn Errors DNA Mutational Analysis Homo sapiens Infant Infant, Newborn Male Mutation Neonatal Screening Tandem Mass Spectrometry
1
(4.0%)		 17206463
 Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
Ristoff E, Burstedt M, Larsson A, Wachtmeister L.
J Inherit Metab Dis. 2007;30(1):102.
Blindness
GSS
Antioxidants Electroretinography Females Free Radical Scavengers Homo sapiens Inborn Errors of Metabolism Oxidation-Reduction Reactive Oxygen Species Retinal Diseases
1
(4.0%)		 15519833
 [Gluthathion synthetase deficit in a newborn infant].
Fily A, Vaillant C, Truffert P, Rouland V, Dobbelaere D, Kacet N.
Arch Pediatr. 2004;11(11):1339-41.
Metabolic acidosis
GSS
Females Homo sapiens Infant, Newborn
        

Phenotype(s) retrieved from Orphanet

    Total: 5

HPO ID Term Frequency
HP:0000707 Abnormality of the nervous system Very frequent (99-80%)
HP:0001878 Hemolytic anemia Very frequent (99-80%)
HP:0001996 Chronic metabolic acidosis Very frequent (99-80%)
HP:0003343 Reduced glutathione synthetase activity Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0001878 Hemolytic anemia 5
HP:0001942 Metabolic acidosis 4
HP:0001022 Albinism 1
HP:0003128 Lactic acidosis 1
HP:0012072 Aciduria 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID