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Review

Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry

by
Riccardo Montioli
* and
Carla Borri Voltattorni
*
Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Strada Le Grazie, 8, 37134 Verona, Italy
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2021, 22(6), 3146; https://doi.org/10.3390/ijms22063146
Submission received: 25 February 2021 / Revised: 15 March 2021 / Accepted: 16 March 2021 / Published: 19 March 2021

Abstract

Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the DDC gene, leading to a deficit of AADC, a pyridoxal 5′-phosphate requiring enzyme that catalyzes the decarboxylation of L-Dopa and L-5-hydroxytryptophan in dopamine and serotonin, respectively. Although clinical and genetic studies have given the major contribution to the diagnosis and therapy of AADC deficiency, biochemical investigations have also helped the comprehension of this disorder at a molecular level. Here, we reported the steps leading to the elucidation of the functional and structural features of the enzyme that were useful to identify the different molecular defects caused by the mutations, either in homozygosis or in heterozygosis, associated with AADC deficiency. By revisiting the biochemical data available on the characterization of the pathogenic variants in the purified recombinant form, and interpreting them on the basis of the structure-function relationship of AADC, it was possible: (i) to define the enzymatic phenotype of patients harboring pathogenic mutations and at the same time to propose specific therapeutic managements, and (ii) to identify residues and/or regions of the enzyme relevant for catalysis and/or folding of AADC.
Keywords: aromatic amino acid decarboxylase; dopa decarboxylase; AADC deficiency; pyridoxal 5′-phophate; pathogenic variants; rare disease aromatic amino acid decarboxylase; dopa decarboxylase; AADC deficiency; pyridoxal 5′-phophate; pathogenic variants; rare disease

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MDPI and ACS Style

Montioli, R.; Borri Voltattorni, C. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry. Int. J. Mol. Sci. 2021, 22, 3146. https://doi.org/10.3390/ijms22063146

AMA Style

Montioli R, Borri Voltattorni C. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry. International Journal of Molecular Sciences. 2021; 22(6):3146. https://doi.org/10.3390/ijms22063146

Chicago/Turabian Style

Montioli, Riccardo, and Carla Borri Voltattorni. 2021. "Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry" International Journal of Molecular Sciences 22, no. 6: 3146. https://doi.org/10.3390/ijms22063146

APA Style

Montioli, R., & Borri Voltattorni, C. (2021). Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry. International Journal of Molecular Sciences, 22(6), 3146. https://doi.org/10.3390/ijms22063146

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