L-Arginine:glycine amidinotransferase deficiency

Orpha code: 35704OMIM code: 612718

Definition

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

Disease data
Classification

Disease

Synonyms
AGAT deficiency
Niedobór AGAT
ORPHA code
35704
OMIM code
612718
ICD10 code
E72.8
ICD11 code
-

No additional description.

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