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Argininemia

Orpha number ORPHA90
Synonym(s) Arginase deficiency
Hyperargininemia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Childhood
ICD-10
  • E72.2
ICD-O -
OMIM
UMLS
  • C0268548
MeSH
  • D020162
MedDRA
  • 10062695

Summary

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


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Detailed information

Clinical practice guidelines
  • EN (2012)
Article for general public
  • NL (2011,pdf)
  • ES (2011,pdf)
  • FR (2011,pdf)
  • IT (2011,pdf)
  • PT (2011,pdf)
  • DE (2011,pdf)
  • EN (2011,pdf)
Clinical genetics review
  • EN (2014)
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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.