Details of Disease
General Information of Disease (ID: DISQDMKF)
| Disease Name | Cerebral creatine deficiency syndrome | |||||
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| Synonyms | creatine deficiency syndrome; cerebral creatine deficiency syndrome; CDS; CCDS | |||||
| Definition |
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.
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