AGAT deficiency (Q18553418)
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amino acid metabolic disorder that has material basis in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis
- CEREBRAL CREATINE DEFICIENCY SYNDROME 3
- arginine:glycine amidinotransferase deficiency
- Gatm Deficiency
- CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3
- Creatine Deficiency Syndrome Due to Agat Deficiency
- Agat Deficiency
- Cerebral Creatine Deficiency Syndrome type 3
- CCDS3
- L-Arginine:glycine amidinotransferase deficiency
Language | Label | Description | Also known as |
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English | AGAT deficiency |
amino acid metabolic disorder that has material basis in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis |
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Statements
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270.8
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C198575
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