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Yang, C. Aromatic l-amino Acid Decarboxylase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4779 (accessed on 13 September 2026).
Yang C. Aromatic l-amino Acid Decarboxylase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4779. Accessed September 13, 2026.
Yang, Catherine. "Aromatic l-amino Acid Decarboxylase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4779 (accessed September 13, 2026).
Yang, C. (2020, December 24). Aromatic l-amino Acid Decarboxylase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4779
Yang, Catherine. "Aromatic l-amino Acid Decarboxylase Deficiency." Encyclopedia. Web. 24 December, 2020.
Aromatic l-amino Acid Decarboxylase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/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.

genetic conditions

References

  1. 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 aciddecarboxylase deficiency. Neurology. 2010 Jul 6;75(1):64-71. doi:10.1212/WNL.0b013e3181e620ae.10;75(6):576. Dosage error in article text.
  2. Hyland K, Surtees RA, Rodeck C, Clayton PT. Aromatic L-amino aciddecarboxylase deficiency: clinical features, diagnosis, and treatment of a newinborn error of neurotransmitter amine synthesis. Neurology. 1992Oct;42(10):1980-8.
  3. Hyland K. Inherited disorders affecting dopamine and serotonin: criticalneurotransmitters derived from aromatic amino acids. J Nutr. 2007 Jun;137(6 Suppl1):1568S-1572S; discussion 1573S-1575S. doi: 10.1093/jn/137.6.1568S.
  4. 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 decarboxylasedeficiency in high-prevalence areas: a pilot study. Clin Chim Acta. 2012 Jan18;413(1-2):126-30. doi: 10.1016/j.cca.2011.09.008.
  5. Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders ofneurotransmitters in children and adults. Clin Biochem. 2005 Dec;38(12):1051-8.
  6. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitterdisorders. J Child Neurol. 2007 May;22(5):606-16. Review.
  7. Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, DeVivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical features,treatment, and prognosis. Neurology. 2004 Apr 13;62(7):1058-65. Review.
  8. Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-amino aciddecarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol.2003;54 Suppl 6:S49-55.
  9. Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA. Aromatic L-amino aciddecarboxylase enzyme activity in deficient patients and heterozygotes. Mol Genet Metab. 2007 Apr;90(4):363-9.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 963
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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