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Guanidinoacetate methyltransferase deficiency

Orpha number ORPHA382
Synonym(s) Cerebral creatine deficiency
GAMT deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • E72.8
ICD-O -
OMIM
UMLS
  • C0574080
MeSH
  • C537622
MedDRA -
SNOMED CT
  • 124239003

Summary

GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations.


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Detailed information

Clinical genetics review
  • EN (2011)
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