Congenital disorders of creatine synthesis and transport

Deficiency	AGAT	GAMT	CRTR
Clinical features
Developmental delay/intellectual disability	+	+	+
Speech delay	+	+	+
Autism	+/–	+	+
Epilepsy	+/–	+	+
Movement disorder		+	+/–
Basal ganglia changes		+
Myopathy	+		+
Behavioral problems	+	+	+
Biochemical features
Brain creatine deficiency	+	+	+
Guanidinoacetate (U, P, CSF*)	Low to low normal	High	Normal
Creatine	Low (U), normal (CSF)	Low (U, P, CSF)	Males - High normal to high (U, P), normal (CSF) Females - Normal to mildly elevated (U)
Creatinine	Low (U), low to normal (P)	Low to normal (U,P)	Males - Low (U, CSF), low to normal (P) Females - Low to normal (P)
Creatine/creatinine ratio (U)	Normal	Normal	Males - High Females - Normal to mildly elevated
Treatment
Creatine supplementation	+	+	+
Ornithine supplementation		+
Arginine-restricted diet		+
Arginine supplementation			+
Glycine supplementation			+
Other		Sodium-benzoate

AGAT: arginine:glycine amidinotransferase; GAMT: guanidinoacetate methyltransferase; CRTR: creatine transporter; U: urine; P: plasma; CSF: cerebrospinal fluid.
* CSF level of guanidinoacetate known for GAMT deficiency only.

Adapted from: Stockler-Ipsiroglu S, van Karnebeek CDM. Cerebral creatine deficiencies: A group of treatable intellectual developmental disorders. Semin Neurol 2014; 34:350.

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Congenital disorders of creatine synthesis and transport