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Article

Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.

International journal of molecular sciences - 19 Mar 2021

Montioli Riccardo, Borri Voltattorni Carla

Abstract excerpt

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...

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Identifiers

PMID: 33808712
DOI: 10.3390/ijms22063146
PMCID: PMC8003434

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.PMID 33808712Read ↗

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