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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

  • 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.