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%)		 15074378
 A newborn infant with generalized glutathione synthetase deficiency.
Yapicioglu H, Satar M, Tutak E, Narli N, Topaloglu AK.
Turk J Pediatr. 2004;46(1):72-5.
Hemolytic anemia
GSS
Acidosis Fatal Outcome Females Homo sapiens Inborn Errors of Metabolism Infant, Newborn
1
(4.0%)		 11167850
 Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E.
Br J Haematol. 2001;112(2):475-82.
Splenomegaly
G6PD GSS HK1
c|SUB|A|656|G;RS#:28938472 c|SUB|T|808|C rs28938472
Adult Anemia, Hemolytic, Congenital Erythrocytes Females Homo sapiens Infant Male Middle Aged Point Mutation Reverse Transcriptase Polymerase Chain Reaction Single-Stranded Conformational Polymorphism Spain
1
(4.0%)		 8847804
 [Glutathione synthetase deficiency].
Iyori H, Hirono A, Kobayashi N, Ishitoya N, Akatsuka J, Kanno H, Fujii H, Miwa S.
Rinsho Ketsueki. 1996;37(4):329-34.
Nonspherocytic hemolytic anemia
GSS GSTK1
Child Females Glutathione S-Transferase Homo sapiens Japan Male
1
(4.0%)		 8634459
 Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S.
Blood. 1996;87(5):2071-4.
Hemolytic anemia
GSS
Adult Anemia, Hemolytic, Congenital Nonspherocytic Child Child, Preschool Erythrocytes Females Glutamate-Cysteine Ligase Glutathione Reductase Homo sapiens Male Oxidation-Reduction
1
(4.0%)		 8301428
 Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency.
Jain A, Buist NR, Kennaway NG, Powell BR, Auld PA, Martensson J.
J Pediatr. 1994;124(2):229-33.
Aciduria
GSS
Child, Preschool Females Homo sapiens Inborn Errors of Metabolism Lymphocyte
1
(4.0%)		 6882923
 Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Prchal JT, Crist WM, Roper M, Wellner VP.
Blood. 1983;62(4):754-7.
Albinism
GSS
Acidosis Albinism Anemia, Hemolytic Cultured Cells Erythrocytes Fibroblasts Glucosephosphate Dehydrogenase Homo sapiens Infant Male
1
(4.0%)		 4047346
 Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
Larsson A, Wachtmeister L, von Wendt L, Andersson R, Hagenfeldt L, Herrin KM.
Neuropediatrics. 1985;16(3):131-6.
Acidosis
Child Electroretinography Females Homo sapiens Psychometrics Pyrrolidinones Retinal Diseases
1
(4.0%)		 3944259
 Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.
Beutler E, Gelbart T, Pegelow C.
J Clin Invest. 1986;77(1):38-41.
Hemolytic anemia
GSS GSTK1
Anemia, Hemolytic Child Dithionitrobenzoic Acid Erythrocytes Glutathione S-Transferase Homo sapiens Leukocytes Male Reticulocytes
1
(4.0%)		 2702756
 Pyroglutamic acidemia in an adult patient.
Creer MH, Lau BW, Jones JD, Chan KM.
Clin Chem. 1989;35(4):684-6.
Ataxia
GSS
Acidosis Amino Acid Metabolism, Inborn Errors Females Gas Chromatography-Mass Spectrometry Homo sapiens Middle Aged Pyrrolidinones
        

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