The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome

Pathogenesis of creatine transporter deficiency

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine. We describe a patient with a brain creatine deficiency synd...

Creatine metabolism and disease Primary creatine metabolism disorders- Cerebral Creatine Deficiency Syndromes Cerebral Creatine Deficiency Syndromes (CCDS) are a group of disorders consisting of defects in proteins involved in creatine biosynthesis, AGAT and GAMT, and in its transporter, SLC6A8

Females heterozygous for creatine transporter deficiency

The creatine transporter deficiency is an X-linked cause of intellectual disability. We investigated the clinical features and pattern of X-inactivation in a Dutch cohort of eight female heterozygotes. We show that symptoms of the creatine transporter deficiency (intellectual disability, learning difficulties, constipation) can be present in female heterozygotes. We further show that the diagno...

A novel mouse model of creatine transporter deficiency

Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral disturbances, language and speech impairment ( OMIM #300352). CCDS1 is still an untreatable pathology that can be very invalidating for patients an...