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GENATLAS PHENOTYPE

last update : 07/01/2009

Symbol	GATM
Location	15q21.1
Name	mental retardation and severe language delay
Other name(s)	AGAT deficiency GATM deficiency creatine deficiency syndrome
Corresponding gene	GATM
Other symbol(s)	AGAT
Main clinical features	developmental delay/regression, mental retardation, intractable seizures and movement disorder, severe disturbance of their expressive and cognitive speech brain creatine deficiency detected by in vivo proton magnetic resonance spectroscopy, treatable by creatine oral administration leading to complete restoration of brain creatine level
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)