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Hyperargininemia

Last updated March 16, 2018

Approved by: Maulik P. Purohit MD, MPH


The topic Hyperargininemia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Arginase Deficiency Disorder.

Quick Summary:

  • Arginase Deficiency Disorder is a rare, genetic disorder that is characterized by the lack of an enzyme, arginase, which is important for body metabolism
  • The predisposing risk factor of Arginase Deficiency Disorder is inheriting two mutated copies of the gene that causes the disorder from the parents. Arginase Deficiency Disorder is caused by mutation in the ARG1 gene that is inherited in an autosomal recessive manner
  • Arginase Deficiency Disorder is a congenital disorder that is mostly diagnosed during the neonatal period, since infants are now screened at birth for this disorder. Certain populations in northern Mexico and northern Quebec are more affected by Arginase Deficiency Disorder than other regions in the world
  • The signs and symptoms associated with Arginase Deficiency Disorder typically do not appear during the first few months (or even up to a year) of the infant’s life. However, delayed growth during the ages of 1 to 3 years, and the lack of control of voluntary movements are strong indicators of this deficiency disorder. Complications include persistent liver dysfunction or central nervous system abnormalities
  • A diagnosis may be established during newborn screening by detecting a higher-than-normal concentration of arginine in blood, which may be the result of Arginase Deficiency Disorder
  • Treatment options include dialysis to lower blood ammonia (nitrogen) concentration, nitrogen scavenger drugs, and dietary restrictions. The prognosis of Arginase Deficiency Disorder is generally good, so long as the necessary dietary restrictions are adhered to and proper medication is taken before symptom onset
  • There are no preventive measures available for this disorder, as it is caused by genetic factors. Genetic counseling may help couples determine risks of having a child with Arginase Deficiency Disorder

Please find comprehensive information on Arginase Deficiency Disorder regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 16, 2017
Last updated: March 16, 2018