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L-arginine:glycine amidinotransferase deficiency (AGAT deficiency)
Pathology:
- defect in creatine metabolism
Genetics:
- associated with defects in GATM
Clinical manifestations: mental retardation
General
enzyme deficiency
Database Correlations
OMIM 602360
MORBIDMAP 602360
References
OMIM :accession 602360