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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mild phenylketonuria


Other Names for this Disease
  • Mild PKU
  • mPKU
  • Variant phenylketonuria
  • Variant PKU
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Overview

Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. Clinical signs include reduced cognitive function and behavioral and developmental disorders. It is caused by certain mutations in the PAH gene which result in slightly higher activity of the phenylalanine hydroxylase compared with the classic phenylketonuria where there is a complete or near-complete deficiency of phenylalanine hydroxylase activity. Inheritance is autosomal recessive. Treatment is with a diet low in phenylalanine (patients can have up to 400-600 mg/day of phenylalanine).[1][2]
Last updated: 12/28/2015

References

  1. Mitchell JJ. Phenylalanine Hydroxylase Deficiency. GeneReviews. January 31, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1504/. Accessed 12/28/2015.
  2. Mild phenylketonuria. Orphanet. April, 2012; http://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=EN&data_id=11279. Accessed 12/28/2015.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Other Names for this Disease
  • Mild PKU
  • mPKU
  • Variant phenylketonuria
  • Variant PKU
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.