X-linked creatine deficiency

X-linked creatine deficiency is an inherited disorder that primarily affects the brain. 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 (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may grow slower and develop motor skills, such as sitting and walking, later than their peers. Affected individuals tend to tire easily.

A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).

Other names

Creatine transporter defect; Creatine transporter deficiency; SLC6A8 deficiency; SLC6A8-related creatine transporter deficiency; X-linked creatine deficiency syndrome

Inheritance pattern

X-linked

Related genes

SLC6A8

Source: MedlinePlus Genetics, U.S. National Library of Medicine.