MeSH Browser

MeSH Supplementary: Creatine deficiency, X-linked
Unique ID: C535598
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535598
Entry Term(s): CCDS1; Cerebral creatine deficiency syndrome 1; Creatine Deficiency Syndrome, X-Linked; Creatine Transporter Defect; Creatine Transporter Deficiency; Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia; Mental retardation, X-linked, with creatine transport deficiency; Slc6a8 Deficiency; Slc6a8-Related Creatine Transporter Deficiency; X-Linked Creatine Deficiency; X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency
Heading Mapped to: Creatine / deficiency; *Brain Diseases, Metabolic, Inborn; *Mental Retardation, X-Linked; Plasma Membrane Neurotransmitter Transport Proteins / deficiency
Frequency: 63
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Creatine deficiency, X-linked MeSH Supplementary Concept Data 2024