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Diseases

Genetic and Rare Diseases Information Center (GARD)

Aromatic L-amino acid decarboxylase deficiency


Other Names for this Disease
  • Aromatic amino acid decarboxylase deficiency
  • AADC deficiency
  • DDC deficiency
  • Dopa decarboxylase deficiency
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Overview

Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system.[1] Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment.[2] The condition is caused by mutations in the DDC gene. It is inherited in an autosomal recessive pattern.[1] Treatment includes a variety of medications which may result in varying levels of success in individual patients. Physical, occupational, and speech therapy may also be of benefit.[2]
Last updated: 3/1/2016

References

  1. Aromatic l-amino acid decarboxylase deficiency. Genetics Home Reference (GHR). May 2008; https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency.
  2. What is Aromatic L-Amino Acid Decarboxylase Deficiency?. Pediatric Neurotransmitter Disease Association. http://www.pndassoc.org/diseases/aadc.html. Accessed 3/1/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Aromatic L-amino acid decarboxylase deficiency. This website is maintained by the National Library of Medicine.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aromatic L-amino acid decarboxylase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Aromatic amino acid decarboxylase deficiency
  • AADC deficiency
  • DDC deficiency
  • Dopa decarboxylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.