Title : Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.

Pub. Date : 2021 Nov

PMID : 34481663






3 Functional Relationships(s)
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1 BACKGROUND: 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. Catecholamines dopa decarboxylase Homo sapiens
2 BACKGROUND: 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. Catecholamines dopa decarboxylase Homo sapiens
3 BACKGROUND: 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. Catecholamines dopa decarboxylase Homo sapiens