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GENATLAS PHENOTYPE

last update : 17-03-2021

Symbol	CRTRD
Location	Xq28
Name	creatine deficiency syndrome
Other name(s)	mental retardation with creatine transport deficiency
Corresponding gene	SLC6A8
Main clinical features	characterized by seizures, autistic behavior, absent speech, developmental delay and hypotonia, mental retardation, midface hypoplasia, progressive intestinal, muscular and neurological deterioration, absence of brain creatin by proton magnetic resonance spectroscopy non reversible by creatin administration
Genetic determination	sex linked
Prevalence	1p100 of males with mental retardation ofunknown etiology
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)

potential of S-adenosyl methionine as an adjunctive therapy for creatine transporter deficiency patients (PMID: 26205312))