Creatine Transporter Defect

X-linked Creatine Deficiency is an inherited disorder of the sodium and chloride dependent Creatine Transporter, which affects muscle and primarily the brain. It is estimated a frequent cause of X-linked in tellectual disability. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked Creatine Deficiency may experience slow growth, poor muscke bulk and strength and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily. (Source: Genetics Home Reference)

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