Argininemia

Treatment

Will my child have to use medical food product for argininemia for their entire life or just a period of time?

People with argininemia must follow a special, low-protein diet for their entire lives. This is because a certain building block of protein, called arginine, cannot be broken down in the bodies of people with argininemia. For this reason, it is important to avoid arginine and limit protein in the diet for a person's entire life. People with argininemia must also eat special medical foods to help make up for nutrients that they miss getting because of their special diet. There are special medical foods created specifically for people with amino acid disorders. The National Urea Cycle Disorders Foundation has information on where to get special medical foods. Current guidelines strongly recommend that people with argininemia follow a special diet including using supplemental medical foods for their entire lives.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/argininemia/treatment/61639 • DATE UPDATED: 2019-06-17

References

Arginase Deficiency. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/arginase-deficiency

Scaglia F, Lee B. Clinical, Biochemical, and Molecular Spectrum of Hyperargininemia Due to Arginase I Deficiency. Am J Med Genet C Semin Med Genet. 2006; 0(2):113-120.

Arginase deficiency. The Genetics and Rare Diseases Information Center website. https://rarediseases.info.nih.gov/diseases/5840/resources

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