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Human Disease
AGAT deficiency
- Term ID
- DOID:0050712
- Synonyms
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- arginine glycine amidinotransferase deficiency
- Cerebral creatine deficiency syndrome 3
- Definition
- An 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. http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency
- References
- Ontology
- Human Disease ( DOID:0050712 )
- is a type of
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