Introduction
On this page you can access selected publication digests about aromatic L-amino acid decarboxylase (AADC) deficiency symptoms, screening approaches, diagnosis, management and clinical outcomes.
Click on the links below to access the full publication digests.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Pearson TS, et al. J Inherit Metab Dis. 2020;43(5):1121–30.
Publication Date | May 2020
Authors | Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L.
Citation | J Inherit Metab Dis. 2020;43(5):1121–30.
Prevalence of aromatic L-amino acid decarboxylase deficiency in at-risk populations
Hyland K, Reott M. Ped Neurol. 2020;106:38–42.
Publication Date | May 2020
Authors | Hyland K, Reott M.
Citation | Ped Neurol. 2020;106:38–42. doi:10.1016/j.pediatrneurol.2019.11.022.
Deriving vignettes for the rare disease AADC deficiency using parent, caregiver and clinician interviews to evaluate the impact on health-related quality of life
Hanbury A, Smith AB, Buesch K. Patient Relat Outcome Meas. 2021;12:1‒12.
Publication Date | Jan 2021
Authors | Hanbury A, Smith AB, Buesch K.
Citation | Patient Relat Outcome Meas. 2021;12:1‒12.
High throughput newborn screening for aromatic L-amino acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots
Brennenstuhl H, et al. J Inherit Metab Dis. 2020;43(3):602–610.
Publication Date | May 2020 (epub 6 Jan 2020)
Authors | Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.
Citation | J Inherit Metab Dis. 2020;43(3):602–610.
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino acid decarboxylase deficiency: The north-eastern Italian experience
Burlina A, et al. Mol Genet Metab. 2021;133:56–62.
Publication Date | March 2021
Authors | Burlina A, Giuliani A, Polo G, Gueraldi D, Gragnaniello V, Cazzorla C, Opladen T, Hoffmann G, Blau N, Burlina AP.
Citation | Mol Genet Metab. 2021;133:56–62.
Clinical profile and outcome of Indian children with aromatic L-amino acid decarboxylase deficiency: A primary CSF neurotransmitter disorder mimicking as dyskinetic cerebral palsy
Gowda VK, et al. J Pediatr Genet. 2020.
Publication Date | July 2020
Authors | Gowda VK, Vegda H, Nagarajan BB, Shivappa SK.
Citation | J Pediatr Genet. 2020. doi:10.1055/s-0040-1714690.
Atypical presentation of aromatic L-amino acid decarboxylase deficiency with developmental epileptic encephalopathy
Marchese F, et al. J Pediatr Epilepsy. 2021.
Publication Date | Feb 2021
Authors | Marchese F, Faedo E, Vari MS, Bergonzini P, Iacomino M, Guerra A, Franceschetti L, Baroni A, Scudieri P, Minetti C, Striano P.
Citation | J Pediatr Epilepsy. 2021. doi:v10.1055/s-0041-1723768.
Aromatic L-amino acid decarboxylase deficiency: Results from an Italian modified Delphi consensus
Fusco C, et al. Ital J Pediatr. 2021;47:13.
Publication Date | Jan 2021
Authors | Fusco C, Leuzzi V, Strian P, Battini R, Burlina A, the Delphi panel experts’ group and Spagnoli C.
Citation | Ital J Pediatr. 2021;47:13.
Symptoms and impact of aromatic L-amino acid decarboxylase deficiency: A qualitative study and the development of a patient-centered conceptual model
Williams K, et al. Curr Med Res Opin. 2021;37:1353–1361.
Publication Date | June 2021
Authors | Williams K, Skrobanski H, Werner C, O’Neill S, Buesch K and Acaster S.
Citation | Curr Med Res Opin. 2021;37:1353–1361.
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency
Di Carlo E, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2021;1185:122999.
Publication Date | October 2021
Authors | Di Carlo E, Santagata S, Sauro L, Tolve M, Manti F, Leuzzi V, Angeloni A, Carducci C.
Citation | J Chromatogr B Analyt Technol Biomed Life Sci. 2021;1185:122999.
A discrete choice experiment to derive health utilities for aromatic L-amino acid decarboxylase (AADC) deficiency in France
Smith AB, et al. Patient Relat Outcome Meas. 2022;13:21–30.
Publication Date | January 2022
Authors | Smith AB, Hanbury A, Whitty JA, Beitia Ortiz de Zarate I, Hammes F, de Pouvourville G, Buesch K.
Citation | Patient Relat Outcome Meas. 2022;13:21–30.
Symptoms and impacts of aromatic L‑amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function
Williams K, et al. Orphanet J Rare Dis. 2022;17:128.
Publication Date | March 2022
Authors | Williams K, Skrobanski H, Buesch K, Acaster S.
Citation | Orphanet J Rare Dis. 2022;17(1):128.
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