Mild form of aromatic L-amino acid decarboxylase deficiency.

Abstract excerpt

Aromatic L-amino acid decarboxylase (AADC) deficiency (Online Mendelian Inheritance in Man #608643) is a rare autosomal recessive neurometabolic disorder caused by pathogenic variants in the DDC gene, leading to impaired enzyme activity. Affected individuals typically develop symptoms in early infancy, including truncal hypotonia, global developmental delay and oculogyric crises, and the condition is generally...

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