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Creatine deficiency syndrome
Disease 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.
ORPHA:79172
Classification level: Group of disorders- Synonym(s):
- CCDS
- CDS
- Cerebral creatine deficiency syndrome
- Prevalence: Unknown
- Inheritance: X-linked recessive or Not applicable or Autosomal recessive
- Age of onset: Infancy, Childhood
- ICD-10: E72.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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