ORPHA:33573
Gamma-glutamyl transpeptidase deficiency
Synonyms: Gamma-glutamyl transferase deficiency · Glutathionuria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A disorder that is characterized by increased glutathione concentration in the plasma and urine.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gamma-glutamyl transpeptidase deficiency | Gamma-glutamyl transferase deficiency · Glutathionuria |
| fr | Déficit en gamma-glutamyl transpeptidase | Déficit en gamma-glutamyl transférase · Glutathionurie |
| de | Gamma-Glutamyltranspeptidase-Mangel | Gamma-Glutamyltransferase-Mangel · Glutathionurie |
| es | Deficiencia de gamma-glutamil transpeptidasa | Deficiencia de gamma-glutamil transferasa · Glutationuria |
| it | Deficit di gamma-glutamil transpeptidasi | Glutationuria |
| nl | Deficiëntie van gamma-glutamyltranspeptidase | Deficiëntie van gamma-glutamyltransferase · Glutathionurie |
| pt | Deficiência de gama-glutamil transpeptidase | |
| pl | Niedobór gamma-glutamylotranspeptydazy | Glutationuria |
| cs | Deficit gamma-glutamyltranspeptidázy | Glutathionurie |
| uk | Дефіцит гамма-глутамілтранспептидази | Дефіцит гамма-глутамілтрансферази · Глутатіонурія |
| zh | γ-谷氧酰转肽酶缺乏 | γ-谷氧酰转肽酶缺乏症 |
| tr | Gama-glutamil transpeptidaz eksikliği | Glutatyonüri · Gama-glutamil transferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231950 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.5 | NTBT | index | validated |
| MONDO | 0009285 | E | validated | |
| MeSH | C536836 | E | validated | |
| UMLS | C0268524 | E | validated | |
| GARD | 10099 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79196Disorder of the gamma-glutamyl cycle
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GGT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4250 | ENSG00000100031 | 612346 | 22q11.23 | gamma-glutamyltransferase 1 | 29483667[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 15702405[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15702405[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.
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HPO phenotypes
10 annotations · validated 2025-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0034456 | Elevated circulating glutathione concentration | |
| HP:0034586 | Glutathionuria | |
| HP:0001249 | Intellectual disability | |
| HP:6000578 | Reduced tissue gamma-glutamyltransferase activity | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001347 | Hyperreflexia | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17397529[PMID]_29483667[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33573
- This record as JSON: /data/d/33573.json