[MIM 300 352]

Prevalence: < 1/106 . X-linked transmission or de novo mutation. The X-linked creatine transporter deficit is mainly due to the shift of the reading frame and the splicing mutations of the creatine transporter gene CRTR (SLC6A8) (Xq28), resulting in a cerebral creatine deficiency.

Symptoms usually appear in childhood, before 2 years ofage. Men are mainly affected, but women can also present with different clinical forms of variable severity :

-         moderate to severe intellectual disability and speech and expressive language retardation.

-         behavioral disorders: mainly autistic spectrum disorder and hyperactivity in all individuals

-          epilepsy and extrapyramidal symptoms may also occur occasionally

-          sometimes a low weight as well as hypotonia and a low muscle mass.

-          in several affected men, midface hypoplasia, an elongated face and a prominent chin have been reported.

-          in adult patients, cardiac and gastrointestinal anomalies have been observed.

Diagnosis:  increased level of creatine in plasma and urines, absence of creatine peak by MRI spectroscopy , measurement of enzyme activity in fibroblasts

Anesthetic implications:

intellectual deficit; behavioral disorders, epilepsy

References :

-        Cheillan D, Cognat S, Vandenberghe N, Des Portes V, Vianey-Saban C.
Les syndromes de déficit en créatine.
Rev Neurol 2005; 3: 284-9.

-        Cano A, Valayannopoulos V.
Nouvelles pathologies,
in Maladies métaboliques héréditaires, édité par Chabrol B et de Lonlay P, Doin 2011, p 159-61

Updated: March 2018