Glutathione synthetase deficiency with 5-oxoprolinuria

General Information (adopted from Orphanet):

Synonyms, Signs: PYROGLUTAMIC ACIDURIA
5-&#64
OXOPROLINURIA
GSSD
Number of Symptoms 22
OrphanetNr: 289846
OMIM Id: 266130
ICD-10: D55.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glutathione synthetase deficiency
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
2
 (HPO:0200099) Peripheral retinal pigmentation abnormalities 1 / 7739
3
 (HPO:0001260) Dysarthria 329 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0002080) Intention tremor 44 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001285) Spastic tetraparesis 29 / 7739
8
 (HPO:0001345) Psychotic mentation 2 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0001878) Hemolytic anemia 83 / 7739
11
 (HPO:0001875) Neutropenia 83 / 7739
12
 (HPO:0003343) Glutathione synthetase deficiency 2 / 7739
13
 (HPO:0001996) Chronic metabolic acidosis 3 / 7739
14
 (OMIM) Pyroglutamic aciduria 1 / 7739
15
 (OMIM) Decreased erythrocyte glutathione 1 / 7739
16
 (OMIM) Neutrophil bactericidal and iodination defects responsive to vitamin E (alpha-tocopherol) 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Mild hemolytic anemia 1 / 7739
19
 (OMIM) Increased gamma-glutamyl-cysteine synthetase 1 / 7739
20
 (OMIM) Pyroglutamic acidemia 1 / 7739
21
 (OMIM) Psychotic behavior 1 / 7739
22
 (OMIM) Episodic neutropenia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of ...
Diagnosis OMIM - Prenatal Diagnosis

Erasmus et al. (1993) described a family in which an affected girl died at the age of 6 weeks. Both parents and the maternal grandmother had erythrocyte glutathione synthetase activity in the heterozygote ...
Clinical Description OMIM Jellum et al. (1970) discovered large amounts of pyroglutamic acid in the urine and plasma of a 19-year-old retarded Norwegian male. The chemical search was initiated because of unexplained chronic metabolic acidosis. Pyroglutamic acid was isolated by gas ...
Molecular genetics OMIM In 3 families with glutathione synthetase deficiency, Shi et al. (1996) identified 7 mutations in the GSS gene on 6 alleles (601002.0001-601002.0006).

In 41 patients (33 previously reported) with glutathione synthetase deficiency from 33 families, Njalsson ...