Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Arginine:glycine amidinotransferase deficiency

Orpha number ORPHA35704
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • E72.8
MeSH -
MedDRA -


L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Clinical genetics review
  • EN (2011)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.