There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual
disability characterized by cerebral creatine deficiency. This review describes the current …

Background Creatine transporter deficiency is a monogenic cause of X-linked intellectual
disability. Since its first description in 2001 several case reports have been published but an …

Creatine is a nitrogen containing compound that serves as an energy shuttle between the
mitochondrial sites of ATP production and the cytosol where ATP is utilized. There are two …

Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and
intellectual disabilities, loss of speech, and behavioral abnormalities. To date, no mouse …

The second-largest cause of X-linked mental retardation is a deficiency in creatine
transporter (CRT; encoded by SLC6A8), which leads to speech and language disorders with …

The 21 st century is an exciting time to be in the field of metabolic medicine. As with many
fields, one of the keys to anticipating the future is to understand the past. The term “inborn …

Creatine provides cells with high-energy phosphates for the rapid reconstitution of
hydrolyzed adenosine triphosphate. The eponymous creatine transporter (CRT1/SLC6A8) …

Creatine is an essential metabolite for the storage and rapid supply of energy in muscle and
nerve cells. In humans, impaired metabolism, transport, and distribution of creatine …

Primary care pediatricians and a variety of specialist physicians strive to define an accurate
diagnosis for children presenting with impairment of expressive speech and delay in …