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Eladocagene exuparvovec is indicated for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. [3]Aromatic L-amino acid decarboxylase deficiency is a rare genetic disorder that affects the production of some neurotransmitters, which are chemical messengers that allow cells in the body's nervous system to communicate with each other. [4]
Aromatic L-amino acid decarboxylase deficiency has an autosomal recessive pattern of inheritance. Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive condition, meaning an individual needs to have two faulty copies of the DDC gene in order to be affected. Usually, one copy is inherited from each parent. [3]
Aromatic L-amino acid decarboxylase deficiency is associated with various symptoms as severe developmental delay, oculogyric crises and autonomic dysfunction. The molecular and clinical spectrum of AAAC deficiency is heterogeneous. The first case of AADC deficiency was described in twin brothers 1990.
The systematic name of this enzyme class is L-phenylalanine carboxy-lyase (phenylethylamine-forming). Other names in common use include L-phenylalanine decarboxylase, aromatic L-amino acid decarboxylase, and L-phenylalanine carboxy-lyase. This enzyme participates in phenylalanine metabolism. It employs one cofactor, pyridoxal phosphate.
An aromatic L-amino acid decarboxylase inhibitor (synonyms: DOPA decarboxylase inhibitor, extracerebral decarboxylase inhibitor, DDCI and AAADI) is a medication of type enzyme inhibitor which inhibits the synthesis of dopamine by the enzyme aromatic L-amino acid decarboxylase (AADC, AAAD, or DOPA decarboxylase).
Recently, promising results have been obtained from Phase 1 and Phase 2 trials for a number of diseases, including Leber's congenital amaurosis, [5] [20] [21] hemophilia, [22] congestive heart failure, [23] spinal muscular atrophy, [24] lipoprotein lipase deficiency, [25] and Parkinson's disease.
Once levodopa has entered the central nervous system, it is converted into dopamine by the enzyme aromatic l-amino acid decarboxylase (AAAD), also known as DOPA decarboxylase (DDC). Pyridoxal phosphate (vitamin B 6) is a required cofactor in this reaction, and may occasionally be administered along with levodopa, usually in the form of pyridoxine.
The enzyme Lysine decarboxylase (EC 4.1.1.18) converts lysine to cadaverine. [1] [2] Abbreviated as Ldc, the enzyme is involved in acid-stress response in Enterobacteria. The mode of action is the proton consumption, thereby reducing the overall acidity of its environnement.