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Arginine-Glycine Amidinotransferase Deficiency MeSH Supplementary Concept Data 2024


MeSH Supplementary
Arginine-Glycine Amidinotransferase Deficiency
Unique ID
C567192
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C567192
Entry Term(s)
AGAT Deficiency
Arginine:Glycine Amidinotransferase Deficiency
Creatine Deficiency Syndrome due to AGAT Deficiency
GATM Deficiency
L-Arginine:Glycine Aminidotransferase Deficiency
Registry Number
0
Heading Mapped to
Amidinotransferases / *deficiency
*Amino Acid Metabolism, Inborn Errors
Developmental Disabilities
*Intellectual Disability
*Speech Disorders
Frequency
25
Note
mutation in GATM
Date of Entry
2012/11/05
Revision Date
2019/06/20
Arginine-Glycine Amidinotransferase Deficiency Preferred
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