Creatine deficiency, X-linked [Supplementary Concept]

An X-linked disorder of creatine (Cr) transport characterized by intellectual disability, severe SPEECH DELAY, behavioral abnormalities, and SEIZURES. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment. Mutations in the SLC6A8 gene have been identified. OMIM: 300352

Date introduced: August 25, 2010

MeSH Unique ID: C535598

Heading Mapped to:

• Creatine/deficiency
• Brain Diseases, Metabolic, Inborn
• Mental Retardation, X-Linked
• Plasma Membrane Neurotransmitter Transport Proteins/deficiency

Entry Terms:

• CCDS1
• X-linked creatine transporter deficiency
• X-linked creatine deficiency syndrome
• Creatine Deficiency Syndrome, X-Linked
• Slc6a8-Related Creatine Transporter Deficiency
• Mental retardation, X-linked, with creatine transport deficiency
• X-Linked Creatine Deficiency
• Creatine Transporter Defect
• Creatine Transporter Deficiency
• Slc6a8 Deficiency
• Cerebral creatine deficiency syndrome 1
• Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia