Aromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected ...
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants in the dopa decarboxylase (DDC) gene. Consensus guidelines recommend dopamine agonists, monoamine oxidase inhibitors, and other symptomati...
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC gene and mainly characterized by developmental delay, hypotonia, and oculogyric crises. Early diagnosis is crucial for correct patient management...
Molecular cloning of guinea-pig aromatic-L-amino acid decarboxylase cDNA. Guinea-pig aromatic- l-amino acid decarboxylase (DOPA decarboxylase, DDC), but not rat DDC, reacts with the antibody against rat histidine decarboxylase (H... M Taketoshi,Y Horio,I Imamura,... - 《Biochem Biophys Res...
The proposed name of this enzyme is DOPA decarboxylase (DDC). Expression of the gene was induced by DOPA, as revealed by quantitative RT-PCR analysis. DDC is encoded in a cluster together with a LysR-type transcriptional regulator and a major facilitator superfamily transporter. This genetic ...
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants in the dopa decarboxylase (DDC) gene. Consensus guidelines recommend dopamine agonists, monoamine oxidase inhibitors, and other ...
Dopa decarboxylaseAromatic L-amino acid decarboxylaseAmino acid metabolismInborn errorsNeurotransmittersDopamineBackground: Aromatic I.-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder that results from disease-causing pathogenic variants of the dopa decarboxylase (DDC) ...
DDC (dopa decarboxylase (aromatic L-amino acid decarboxylase))doi:10.4267/2042/46069D FlorouA ScorilasD VassilacopoulouEG FragoulisJean-Loup Huret (Editor-in-Chief) ; INIST-CNRS (Publisher)
polymorphism, mutation, gene, DDC, psychosisAromatic L-amino acid decarboxylase (AADC) is a relatively non specific enzyme involved in the biosynthesis of several classical neurotransmitters including dopamine and 5-hydroxytryptamine (5HT; serotonin). AADC does not catalyse the rate limiting step in ...
Aromatic L-amino acid decarboxylase (AADC) catalyses the decarboxylation of all aromatic L-amino acids. In mammals, AADC is expressed in many tissues besides the nervous system, and is associated with additional regulatory roles of dopamine and serotonin in a wide range of tissues. We examined ...