Guanidinoacetate methyltransferase deficiency
MONDO:0012999A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
Also known as: GAMT deficiency, cerebral creatine deficiency syndrome 2, cerebral creatine deficiency syndrome type 2, disorder of guanidinoacetate N-methyltransferase activity, guanidinoacetate N-methyltransferase activity disease, guanidinoacetate methyltransferase deficiency, CCDS2, creatine deficiency syndrome due to GAMT 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)