OrganismsChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
Tyrosine DecarboxylaseAromatic-L-Amino-Acid DecarboxylasesCarboxy-LyasesDopa DecarboxylaseAmino Acid Transport System LLarge Neutral Amino Acid-Transporter 1Antigens, CD98 Light ChainsAmino Acids, CyclicGlutamate DecarboxylaseAntigens, CD98Amino Acid Transport SystemsAmino AcidsAntigens, CD98 Heavy ChainAmino Acid Transport System y+LeucineMolecular Sequence DataHistidine DecarboxylasePyruvate DecarboxylaseStereoisomerismDecarboxylationSequence Homology, Amino AcidAmino Acids, AromaticOrnithine DecarboxylaseAmino Acid SequenceAdenosylmethionine DecarboxylaseHydrocarbons, AromaticBiological TransportCloning, MolecularSelenomonasPyridoxal PhosphateAmino Acid SubstitutionSubstrate SpecificityEscherichia coliSequence AlignmentPolyporalesPutrescineThiamine PyrophosphateOrnithineKineticsBase SequencePolyaminesBinding SitesCadaverineBacterial ProteinsProtein ConformationAmino Acids, EssentialTricarboxylic AcidsPhylogenyRecombinant ProteinsGenes, BacterialMolecular WeightSequence Analysis, DNAPyruvic AcidAmino Acid MotifsMutationModels, MolecularCrystallography, X-RayMutagenesis, Site-DirectedHistidineLactobacillusHydrogen-Ion ConcentrationStructure-Activity RelationshipPolycyclic CompoundsCatalysisPseudomonasAmino Acids, Branched-ChainPhenylalanineDNA, ComplementaryAcinetobacterSequence Homology, Nucleic Acid
AADCDeficiencyDopa decarboxylaseTyrosineGeneSynthesisEnzymeInhibitionInhibitorDecarboxylationGenesGlucaric AcidMetabolismSpecificityNorepinephrinePlantActivityUrineMakesDopamineGlutamateMetabolism disorderEnzymaticDisorders1998DiagnosisMethyldopaEssential amiHumansBiosynthesisRetinoic acidEnzymesAffinityGlucoseMicrocrystalline CelluloseNeutralPlasmaTermProtein
AADC13
  • Aromatic L-amino acid decarboxylase (AADC or AAAD), also known as DOPA decarboxylase (DDC), tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase, is a lyase enzyme (EC 4.1.1.28), located in region 7p12.2-p12.1. (wikipedia.org)
  • 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. (medlineplus.gov)
  • Aromatic L-amino acid decarboxylase (AADC) is an essential enzyme in the synthesis of serotonin, dopamine, and certain trace amines and is present in a variety of organs including the brain and spinal cord. (lu.se)
  • Dopa decarboxylase (DDC), or aromatic amino acid decarboxylase (AADC), is a pyridoxal 5'-phosphate enzyme responsible for the production of the neurotransmitters dopamine and serotonin. (univr.it)
  • This study describes the findings from the targeted delivery of gene therapy to midbrain to treat a rare deadly neurodevelopmental disorder in children with a neurogenetic disease, aromatic L-amino acid decarboxylase (AADC) deficiency characterized by deficient synthesis of dopamine and serotonin. (news-medical.net)
  • 2021) Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. (news-medical.net)
  • PTC Therapeutics has presented new long-term outcome data from its investigational gene therapy, PTC-AADC, in patients living with aromatic L-amino acid decarboxylase (AADC) deficiency. (pharmatimes.com)
  • AADC deficiency is a rare genetic condition caused by a mutation in the dopa decarboxylase (DDC) gene, resulting in a lack of functioning AADC enzyme, which is responsible for the final step in the synthesis of key neurotransmitters dopamine and serotonin. (pharmatimes.com)
  • The symposium investigated how to differentiate pediatric neurological disorders that may resemble other conditions, with specific examples such as cerebral palsy, epilepsy, and select neurotransmitter disorders, including aromatic L-amino acid decarboxylase (AADC) deficiency. (childneurologysociety.org)
  • SOUTH PLAINFIELD, N.J., Nov. 16, 2020 - PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced the presentation of data on two rare diseases, providing new insights on the burden of Aromatic L-Amino acid Decarboxylase deficiency (AADC-d) and Duchenne muscular dystrophy caused by nonsense mutation (nmDMD). (rarerevolutionmagazine.com)
  • Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients. (checkrare.com)
  • MDM also express mRNA for the dopamine transporter (DAT), vesicular monoamine transporter 2 (VMAT2), tyrosine hydroxylase (TH) and aromatic amino acid decarboxylase (AADC). (elsevierpure.com)
  • Review the clinical case studies on this page, guided by leading experts, to reinforce your understanding of aromatic L-amino acid decarboxylase (AADC) d eficiency. (aadcinsights.eu)
Deficiency8
  • Aromatic l-amino acid decarboxylase deficiency is associated with various symptoms as severe developmental delay, oculogyric crises and autonomic dysfunction. (wikipedia.org)
  • Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. (medlineplus.gov)
  • SSADH deficiency leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to 4-hydroxybutyric acid, also known as GHB (gamma-hydroxybutyric acid). (rarediseases.org)
  • For a complete list of articles on Aromatic L-Amino Acid Decarboxylase Deficiency, please refer to the Online Mendelian Inheritance in Man (OMIM) which is linked below. (pndassoc.org)
  • Deficiency of a plastidial adenylate kinase in Arabidopsis results in elevated photosynthetic amino acid biosynthesis and enhanced growth. (mpg.de)
  • Jamell, who was born with an aromatic L-amino acid decarboxylase deficiency, which occurs when a gene mutation makes it tough for the brain to produce dopamine and serotonin, has suffered from seizures and other effects of the condition his whole life. (today.com)
  • Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. (bvsalud.org)
  • Aminolevulinic acid dehydratase deficiency porphyria (ADP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and hepatoerythropoietic porphyria (HEP) are autosomal recessive. (medscape.com)
Dopa decarboxylase1
  • The structures showed that, unlike mammalian Dopa decarboxylase, the binding of PLP does not induce distinct conformational changes of PsTyrDCII regarding the overall structure, but the PLP binding pocket displays conformational changes at Phe124, His203 and Thr262. (hokudai.ac.jp)
Tyrosine4
  • 1) Rats received single intraperitoneal injections of various neuroactive chemicals in order to compare the changes of gross behaviour and the level of pyridoxal phosphate as well as the activity of decarboxylase of aromatic amino acids, of glutamate decarboxylase and of tyrosine transaminase in the brain. (erowid.org)
  • 5) Tyrosine transaminase activity was significantly diminished by amino-oxyacetate only and showed a late increase after tranylcypromine. (erowid.org)
  • Plant tyrosine decarboxylase (TyrDC) is a group II pyridoxal 5'-phosphate (PLP)-dependent decarboxylase that mainly catalyzes the decarboxylation of tyrosine to tyramine. (hokudai.ac.jp)
  • Tyrosine hydroxylase converts tyrosine to 3,4-dihydroxyphenylalanine (DOPA), which is converted to dopamine under the effect of aromatic l-amino acid decarboxylase, then dopamine β-hydroxylase converts dopamine to norepinephrine and phenylethanolamine N -methyltransferase converts norepinephrine to epinephrine. (medscape.com)
Gene1
  • The Menkes gene is located on the long arm of the X chromosome at Xq13.3, and the gene product (ATP7A) is a 1500-amino acid P-type adenosine triphosphatase (ATPase) that has 17 domains - 6 copper binding, 8 transmembrane, a phosphatase, a phosphorylation, and an ATP binding. (medscape.com)
Synthesis1
  • Tomato aromatic amino acid decarboxylases participate in synthesis of the flavor volatiles 2-phenylethanol and 2-phenylacetaldehyde. (mpg.de)
Enzyme4
  • For example, histamine is biosynthesised strictly via the enzyme histidine decarboxylase in humans and other organisms. (wikipedia.org)
  • However trace amounts from food are quickly metabolized by the enzyme MAO-B (into phenylacetic acid), preventing significant concentrations from reaching the brain. (hmdb.ca)
  • In individuals with the disorder, deficient activity of the SSADH enzyme disrupts the metabolism of gamma-aminobutyric acid (GABA). (rarediseases.org)
  • 4) The activity of glutamate decarboxylase was significantly reduced by thiosemicarbazide only, whereas a distinct increase in enzyme activity was exclusively observed after atropine. (erowid.org)
Inhibition1
  • 1997. Inhibition of L-aromatic amino acid decarboxylase by polychlorinated biphenyls. (cdc.gov)
Inhibitor1
  • the amphetamine-like monoamine oxidase inhibitor tranylcypromine as well as the classical monoamine oxidase inhibitor iproniazid when combined with the monoamine releaser Ro 4-1284) caused a decrease in aromatic decarboxylase activity which was coexistent with maximal changes of gross behaviour and partly preceded the latter. (erowid.org)
Decarboxylation2
Genes1
  • The Menkes and Wilson disease genes have 55% amino acid identity. (medscape.com)
Glucaric Acid1
  • As urinary screens, they are noninvasve and apble on a large scale with current labo techniques For short-term esue, glucaric acid, thloetbers, and mug tests are usefl. (cdc.gov)
Metabolism1
  • Mitochondria and fatty acid metabolism were also likely targets of 3-hydroxy-2-pyridine aldoximes with tetrahydroisoquinoline moiety, due to increased phosphorylation of acetyl-CoA carboxylase. (bvsalud.org)
Specificity1
  • Intensive studies have characterized the effective of PLP-binding and the substrate specificity of mammalian 3,4-dihydroxyphenyl-L-alanine (Dopa) decarboxylases, a member of group II PLP-dependent decarboxylase. (hokudai.ac.jp)
Norepinephrine1
  • Epinephrine, norepinephrine, and vanillylmandelic acid were measured with Chromsystems HPLC assays. (chromsystems.com)
Plant1
  • Potential benefits of bioactive plant substances and organic acids for domestic animals include promoting nutrient absorption and digestion, improving animal growth performance, and promoting intestine health and immune status ( 6 ). (frontiersin.org)
Activity2
  • 6) It is concluded that there is an inverse relationship, in the majority of neuroactive chemicals tested, between changes of gross behaviour and cerebral aromatic decarboxylase activity. (erowid.org)
  • Erythrocyte uroporphyrinogen decarboxylase activity is a reliable diagnostic test for PCT. (medscape.com)
Urine1
  • Test for increased 5-aminolevulinic acid and porphobilinogen (PBG) in a single-void urine collected during an attack. (medscape.com)
Makes1
  • Macleaya cordata extract or benzoic acid have anti-inflammatory, antioxidant, and antimicrobial activities that makes them potential antibiotic alternatives. (frontiersin.org)
Dopamine7
  • The aromatic amino acid decarboxylase inhibitor, NSD-1015, increases release of dopamine: response characteristics. (omeka.net)
  • Addition of the aromatic amino acid decarboxylase inhibitor, NSD-1015 (10 microM), to Krebs'-Ringer phosphate (KRP) superfusion medium, significantly increased the release of dopamine in vitro from superfused corpus striatum tissue fragments of male rats. (omeka.net)
  • Although the putative role of NSD-1015 is as an aromatic amino acid decarboxylase inhibitor, the present results demonstrate that, either as a result of this function and/or in addition to this role, NSD-1015 is a potent activator of the release of dopamine. (omeka.net)
  • McDermott J, "The aromatic amino acid decarboxylase inhibitor, NSD-1015, increases release of dopamine: response characteristics. (omeka.net)
  • 13. Molecular detection of dopamine decarboxylase expression by means of reverse transcriptase and polymerase chain reaction in bone marrow and peripheral blood: utility as a tumor marker for neuroblastoma. (nih.gov)
  • serotonin from the amino acid tryptophan and dopamine from L-3,4-dihydroxyphenylalanine (L-Dopa). (oregonstate.edu)
  • Tyrosine hydroxylase converts tyrosine to 3,4-dihydroxyphenylalanine (DOPA), which is converted to dopamine under the effect of aromatic l-amino acid decarboxylase, then dopamine β-hydroxylase converts dopamine to norepinephrine and phenylethanolamine N -methyltransferase converts norepinephrine to epinephrine. (medscape.com)
Glutamate2
  • The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF, specifically the quantitative determination of the neurotransmitters or their metabolites, that is the amino acids glutamate, glycine and GABA, the acidic metabolites of the biogenic monoamines, and tetrahydrobiopterin metabolites. (novapublishers.com)
  • Other neurotransmitters, including glycine, D-serine, glutamate, histamine, and γ-aminobutyric acid (GABA), are also synthesized in reactions catalyzed by PLP-dependent enzymes (7) . (oregonstate.edu)
Metabolism disorder1
  • Phenylketonuria (PKU) is a type of amino acid metabolism disorder. (nih.gov)
Enzymatic1
  • Compounds and drugs that block or inhibit the enzymatic action of AROMATIC AMINO ACID DECARBOXYLASES . (bvsalud.org)
Disorders3
  • One group of these disorders is amino acid metabolism disorders. (nih.gov)
  • Overview of Amino Acid Metabolism Disorders (Merck & Co., Inc. (nih.gov)
  • Overview of Amino Acid Metabolism Disorders - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version. (nih.gov)
19981
  • CDDs are slowly metabolized in mammalian tissues via oxidation and reductive dechlorination reactions catalyzed by cytochrome P450 enzymes, followed by conjugation to more polar molecules such as glutathione and glucuronic acid (ATSDR 1998). (cdc.gov)
Diagnosis1
  • 4. Combined measurements of plasma aromatic L-amino acid decarboxylase and DOPA as tumour markers in diagnosis and follow-up of neuroblastoma. (nih.gov)
Methyldopa1
  • Methyldopa is an aromatic-aminoacid decarboxylase inhibitor in animals and in man. (nih.gov)
Essential ami3
  • The dietary requirement for niacin and the niacin coenzyme , nicotinamide adenine dinucleotide (NAD), can be also met, though to a fairly limited extent, by the catabolism of the essential amino acid tryptophan in the tryptophan-kynurenine pathway ( Figure 2 ). (oregonstate.edu)
  • Tryptophan (TRP) is an essential amino acid, and it has been suggested that TRP intake at breakfast combined with daytime bright light exposure can increase nocturnal melatonin secretion. (springer.com)
  • Tryptophan (TRP) is an essential amino acid in humans. (springer.com)
Humans2
  • 1994). Because of the long-half life of most of the halogenated aromatic hydrocarbons, animals or humans will be exposed for relatively long periods of time following single exposures. (cdc.gov)
  • Humans cannot produce TRP sufficiently by themselves, so this amino acid must be absorbed in the small intestine from protein-rich foods (for example, milk, eggs, meat, and beans). (springer.com)
Biosynthesis1
  • The many biochemical reactions catalyzed by PLP-dependent enzymes are involved in essential biological processes, such as hemoglobin and amino acid biosynthesis, as well as fatty acid metabolism . (oregonstate.edu)
Retinoic acid2
  • 1989. Cellular alterations and enhanced induction of cleft palate after coadministration of retinoic acid and TCDD. (cdc.gov)
  • 5. 3,4-dihydroxyphenylalanine (dopa) metabolism and retinoic acid induced differentiation in human neuroblastoma. (nih.gov)
Enzymes1
  • 11. Adrenergic enzymes in cultured mouse neuroblastoma: absence of detectable aromatic-L-amino-acid decarboxylase. (nih.gov)
Affinity1
  • Dialysis studies also suggest that the potential isoform responsible for DOPA decarboxylation has a greater binding affinity for PLP than that of 5-HTP decarboxylase. (wikipedia.org)
Glucose1
  • PLP is also a coenzyme for reactions that generate glucose from amino acids, a process known as gluconeogenesis (6) . (oregonstate.edu)
Microcrystalline Cellulose1
  • Other Ingredients: Hypromellose (cellulose capsule), Microcrystalline Cellulose and Stearic Acid (vegetable source). (vitanetonline.com)
Neutral2
  • making a protein called system B(0) neutral amino acid transporter 1 (B0AT1). (nih.gov)
  • This protein transports certain protein building blocks ( amino acids ), namely those with a neutral charge, into cells. (nih.gov)
Plasma3
  • Plasma amino acids is a screening test, usually done on infants that looks at the amounts of amino acids in the blood. (nih.gov)
  • 3. Evaluation of plasma 3,4-dihydroxyphenylacetic acid (DOPAC) and plasma 3,4-dihydroxyphenylalanine (DOPA) as tumor markers in children with neuroblastoma. (nih.gov)
  • 7. Determination of urinary vanillactic acid and plasma dihydroxyphenylalanine as markers of non-secreting neuroblastoma by high-performance liquid chromatography with electrochemical detection. (nih.gov)
Term1
  • Long-term therapy with chenodeoxycholic acid has been effective in treating affected individuals. (rarediseases.org)
Protein1
  • this protein complex absorbs particular protein building blocks ( amino acids ) back into the blood. (nih.gov)