Women affected by the Creatine Transporter Deficiency

Of course also girls / women can be affected by the creatine tranporter deficiency. As the defect is x-linked women more seldom face problems with mental retardation or learning problems than men.
Nevertheless the following study, published 2010, by JM van de Kamp et al shows that also women can face severe handicaps from the deficiency:
"Clinical features and X-inactivation in females heterozygous for creatine transporter defect"


The diagnosis of the deficiency in women seems to be much more difficult than in men.
I have added the link also to our link list today.