cerebral creatine deficiency syndrome true true UMLS:CN227588 https://www.ncbi.nlm.nih.gov/pubmed/23534590 OMIMPS:300352 cerebral creatine deficiency syndrome Orphanet:79172 CDS ICD10:E72.8 CCDS Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. creatine deficiency syndrome MONDO:0000456 Disorders of creatine metabolism comprise three different defects: impaired creatine transport into the brain in the X-linked creatine transporter defect and impaired creatine synthesis in GAMT (guanidinoacetate methyltransferase) and AGAT (arginineglycine amidinotransferase) deficiencies. Only GAMT deficiency is regularly associated with epilepsy, which is often refractory to conventional treatment. Creatine supplementation alone frequently leads to improvement. Several seizure types may occur. Infants can present with West syndrome. Atypical absences, atonic and generalized tonic-clonic seizures are common later in childhood. DOID:0050798 metabolic etiology