AGAT deficiency
MONDO:0012996L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
Also known as: AGAT deficiency, CCDS3, GATM deficiency, L-arginine:glycine amidinotransferase deficiency, arginine:glycine amidinotransferase deficiency, cerebral creatine deficiency syndrome 3, cerebral creatine deficiency syndrome type 3, creatine deficiency syndrome due to AGAT deficiency
1 clinical trial for this condition and its sub-types.
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Disease
(717)
Metabolic disease
(241)
Hereditary disease
(188)
Inborn errors of metabolism
(47)
Human disease
(15)
Inborn disorder of amino acid metabolism
(6)
Amino acid metabolism disease
(2)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of energy metabolism
(1)
Cerebral creatine deficiency syndrome
(0)