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L-Arginine:glycine amidinotransferase deficiency

Disease Export to PDF
Name:
L-Arginine:glycine amidinotransferase deficiency
Description:
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
ORPHAcode:
35704
Synonyms:
AGAT deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
GATM
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14