Aromatic L-amino Acid Decarboxylase Deficiency

About the Disease
Aromatic L-Amino Acid Decarboxylase Deficiency, also known as aadc deficiency, is related to pyridoxamine 5-prime-phosphate oxidase deficiency and lingual-facial-buccal dyskinesia, and has symptoms including constipation, diarrhea and myoclonus. An important gene associated with Aromatic L-Amino Acid Decarboxylase Deficiency is DDC (Dopa Decarboxylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dopa Decarboxylase and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, whole blood and tongue, and related phenotypes are hyperreflexia and sleep disturbance

Common Targets
DDC

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