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Aromatic l-amino acid decarboxylase deficiency

Reviewed May 2008

What is aromatic l-amino acid decarboxylase deficiency?

Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.

Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck.

AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest.

Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.

How common is aromatic l-amino acid decarboxylase deficiency?

AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan.

What genes are related to aromatic l-amino acid decarboxylase deficiency?

Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signals between nerve cells, both in the brain and spinal cord (central nervous system) and in other parts of the body (peripheral nervous system).

Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.

Related Gene(s)

Changes in this gene are associated with aromatic l-amino acid decarboxylase deficiency.

  • DDC

How do people inherit aromatic l-amino acid decarboxylase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of aromatic l-amino acid decarboxylase deficiency?

These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency and may include treatment providers.

  • Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1291564)

You might also find information on the diagnosis or management of aromatic l-amino acid decarboxylase deficiency in Educational resources and Patient support.

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about aromatic l-amino acid decarboxylase deficiency?

You may find the following resources about aromatic l-amino acid decarboxylase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for aromatic l-amino acid decarboxylase deficiency?

  • AADC deficiency
  • DDC deficiency
  • deficiency of aromatic-L-amino-acid decarboxylase
  • dopa decarboxylase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about aromatic l-amino acid decarboxylase deficiency?

Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding aromatic l-amino acid decarboxylase deficiency?

amino acid ; autonomic nervous system ; autosomal ; autosomal recessive ; cardiac ; cardiac arrest ; cell ; central nervous system ; deficiency ; developmental delay ; disability ; dopamine ; enzyme ; esophagus ; fainting ; gastroesophageal reflux ; gene ; hypoglycemia ; hypotension ; hypotonia ; inherited ; involuntary ; lacking in energy ; lethargic ; muscle tone ; nervous system ; neurotransmitters ; peripheral ; peripheral nervous system ; ptosis ; recessive ; stomach ; syncope

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26. Erratum in: Neurology. 2010 Aug 10;75(6):576. Dosage error in article text. (http://www.ncbi.nlm.nih.gov/pubmed/20505134?dopt=Abstract)
  • Hyland K, Surtees RA, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology. 1992 Oct;42(10):1980-8. (http://www.ncbi.nlm.nih.gov/pubmed/1357595?dopt=Abstract)
  • Hyland K. Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids. J Nutr. 2007 Jun;137(6 Suppl 1):1568S-1572S; discussion 1573S-1575S. (http://www.ncbi.nlm.nih.gov/pubmed/17513427?dopt=Abstract)
  • Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. Clin Chim Acta. 2012 Jan 18;413(1-2):126-30. doi: 10.1016/j.cca.2011.09.008. Epub 2011 Sep 21. (http://www.ncbi.nlm.nih.gov/pubmed/21963339?dopt=Abstract)
  • Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec;38(12):1051-8. Epub 2005 Nov 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16298354?dopt=Abstract)
  • Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May;22(5):606-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17690069?dopt=Abstract)
  • Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004 Apr 13;62(7):1058-65. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15079002?dopt=Abstract)
  • Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003;54 Suppl 6:S49-55. (http://www.ncbi.nlm.nih.gov/pubmed/12891654?dopt=Abstract)
  • Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA. Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. Mol Genet Metab. 2007 Apr;90(4):363-9. Epub 2007 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/17240182?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2008
Published: August 24, 2015