ORPHA:35704
L-Arginine:glycine amidinotransferase deficiency
Synonyms: AGAT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | L-Arginine:glycine amidinotransferase deficiency | AGAT deficiency |
| fr | Déficit en l-arginine:glycine amidinotransférase | Déficit en AGAT |
| de | L-Arginin:Glycin-Amidinotransferase-Mangel | AGAT-Mangel |
| es | Deficiencia de L-arginina:glicina amidinotransferasa | Deficiencia AGAT |
| it | Deficit di l-Arginina:glicina amidinotransferasi | Deficit di AGAT |
| nl | L-Arginine:glycine-amidinotransferasedeficiëntie | AGAT-deficiëntie |
| pt | Deficiência de arginina:glicina amidinotransferase | |
| pl | Niedobór amidynotransferazy L-arginina:glicyna | Niedobór AGAT |
| cs | Deficit L-arginin:glycin amidinotransferázy | Deficit AGAT |
| uk | Дефіцит L-аргініну:гліцин-амідинотрансферази | Дефіцит AGAT |
| zh | 精氨酸-甘氨酸脒基转移酶缺乏 | AGAT缺乏症 |
| tr | L-Arjinin: glisin amidinotransferaz eksikliği | AGAT eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612718 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.4 | NTBT | index | validated |
| MONDO | 0012996 | E | validated | |
| MeSH | C567192 | E | validated | |
| UMLS | C2675179 | E | validated | |
| GARD | 10323 | 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:79172Creatine deficiency syndrome
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATM | Disease-causing germline mutation(s) in | Assessed | HGNC:4175 | ENSG00000171766 | 602360 | 15q21.1 | glycine amidinotransferase | 20301745[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 20301745[PMID]_20625172[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
17 annotations · validated 2025-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001263 | Global developmental delay | |
| HP:6000572 | Reduced tissue arginine:glycine amidinotransferase activity | |
| Frequent (79-30%) | ||
| HP:0034597 | Decreased CSF creatinine concentration | |
| HP:0012101 | Decreased serum creatinine | |
| HP:6000748 | Decreased urinary creatine level | |
| HP:6000115 | Decreased urine creatinine level | |
| HP:0034888 | Decreased urine guanidinoacetic acid level | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001324 | Muscle weakness | |
| HP:0003198 | Myopathy | |
| HP:0025051 | Reduced brain creatine level by MRS | |
| HP:0034292 | Reduced circulating creatine concentration | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26490222[PMID]_28971744[PMID]_26542286[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35704
- This record as JSON: /data/d/35704.json