Glutathione synthetase deficiency
Synonyms: Pyroglutamicaciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glutathione synthetase deficiency | Pyroglutamicaciduria |
| fr | Déficit en glutathion synthétase | Acidurie pyroglutamique |
| de | Glutathionsynthetase-Mangel | Pyroglutaminazidurie |
| es | Deficiencia de glutatión sintetasa | Aciduria piroglutámica |
| it | Deficit di glutatione sintetasi | Aciduria piroglutammica |
| nl | Deficiëntie van glutathionsynthetase | Pyroglutamaatacidurie |
| pt | Deficiência de glutationa sintetase | Acidúria piroglutâmica |
| pl | Niedobór syntetazy glutationowej | Kwasica piroglutaminowa |
| cs | Deficit glutathion syntetázy | Pyroglutamová acidurie |
| uk | Дефіцит глутатіонсинтетази | Піроглутамікоцидурія |
| zh | 谷胱甘肽合成酶缺乏症 | 焦谷氨酸尿症 |
| tr | Glutatyon sentetaz eksikliği | Piroglutamikasidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231900 | BTNT | validated | |
| OMIM | 266130 | BTNT | validated | |
| ICD-10 | D55.1 | NTBT | attributed | validated |
| ICD-11 | 3A10.0Y | NTBT | index | validated |
| MONDO | 0017909 | E | validated | |
| MeSH | C536835 | E | validated | |
| UMLS | C0398746 | E | validated | |
| GARD | 10047 | E | validated | |
| MedDRA | 10079364 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:79196Disorder of the gamma-glutamyl cycle
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98370Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
rare genetic diseases; rare hematological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GSS | ORPHA:289846Glutathione synthetase deficiency with 5-oxoprolinuria | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4624 | ENSG00000100983 | 601002 | 20q11.22 | glutathione synthetase | |
| GSS | ORPHA:289849Glutathione synthetase deficiency without 5-oxoprolinuria | Disease-causing germline mutation(s) in | Assessed | HGNC:4624 | ENSG00000100983 | 601002 | 20q11.22 | glutathione synthetase |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 26984560[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26984560[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2025-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001996 | Chronic metabolic acidosis | |
| HP:0003343 | Glutathione synthetase deficiency | |
| HP:0001878 | Hemolytic anemia | |
| HP:0410132 | Increased level of L-pyroglutamic acid in urine | |
| HP:0034738 | Reduced erythrocyte glutathione concentration | |
| Frequent (79-30%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001257 | Spasticity | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 17397529[PMID]_37576147[PMID]_37050856[PMID]_26669244[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/32
- This record as JSON: /data/d/32.json