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Inherited glutathione synthetase deficiency

MedGen UID:
1843504
•Concept ID:
CN030166
•
Disease or Syndrome
Synonyms: 5-oxoprolinuria; glutathione synthetase deficiency; Glutathione synthetase deficiency; GSSD; inborn error of glutathione synthase activity; inborn glutathione synthase activity disorder; inherited glutathione synthetase deficiency; oxoprolinase deficiency; pyroglutamic aciduria; Pyroglutamicaciduria; pyroglutamicaciduria; rare inborn error of glutathione synthase activity
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related gene: GSS
 
Monarch Initiative: MONDO:0017909
Orphanet: ORPHA32

Definition

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. [from ORDO]

Recent clinical studies

Etiology

Glutathione synthetase deficiency.
Njålsson R
Cell Mol Life Sci 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7. PMID: 15990954Free PMC Article
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
Ristoff E, Hebert C, Njålsson R, Norgren S, Rooyackers O, Larsson A
J Inherit Metab Dis 2002 Nov;25(7):577-84. doi: 10.1023/a:1022095324407. PMID: 12638941
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
Lloyd AJ, Gray RG, Green A
J Inherit Metab Dis 1995;18(1):48-55. doi: 10.1007/BF00711372. PMID: 7623442
Glutathione synthetase deficiency: a family report.
Pejaver RK, Watson AH
J R Soc Med 1994 Mar;87(3):171. doi: 10.1177/014107689408700321. PMID: 8158601Free PMC Article

Diagnosis

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 Jan 11;51(3):e6853. doi: 10.1590/1414-431X20176853. PMID: 29340523Free PMC Article
Diagnosis of glutathione synthetase deficiency in newborn screening.
Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkötter U
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S269-72. Epub 2009 Sep 2 doi: 10.1007/s10545-009-1213-x. PMID: 19728142
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
Glutathione synthetase deficiency.
Njålsson R
Cell Mol Life Sci 2005 Sep;62(17):1938-45. doi: 10.1007/s00018-005-5163-7. PMID: 15990954Free PMC Article
Patients with genetic defects in the gamma-glutamyl cycle.
Ristoff E, Larsson A
Chem Biol Interact 1998 Apr 24;111-112:113-21. doi: 10.1016/s0009-2797(97)00155-5. PMID: 9679548

Therapy

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.
Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM
J Inherit Metab Dis 2016 Nov;39(6):821-829. Epub 2016 Aug 3 doi: 10.1007/s10545-016-9963-8. PMID: 27488560
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
Sykut-Cegielska J, Jurecka A, Taybert J, Gradowska W, Pajdowska M, Pronicka E
J Inherit Metab Dis 2005;28(6):1153-4. doi: 10.1007/s10545-005-0156-0. PMID: 16435214
High-dose vitamin E therapy in glutathione synthetase deficiency.
Pejaver RK, Watson AH
J Inherit Metab Dis 1994;17(6):749-50. doi: 10.1007/BF00712019. PMID: 7707700
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
Mårtensson J, Gustafsson J, Larsson A
J Inherit Metab Dis 1989;12(2):120-30. doi: 10.1007/BF01800713. PMID: 2502672

Prognosis

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 Jan 11;51(3):e6853. doi: 10.1590/1414-431X20176853. PMID: 29340523Free PMC Article
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article
Glutathione synthetase deficiency: a family report.
Pejaver RK, Watson AH
J R Soc Med 1994 Mar;87(3):171. doi: 10.1177/014107689408700321. PMID: 8158601Free PMC Article

Clinical prediction guides

Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A
Orphanet J Rare Dis 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. PMID: 17397529Free PMC Article

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