Aromatic L-amino acid decarboxylase deficiency: a familial case

Aromatic L-amino acid decarboxylase deficiency is a severe, rare, genetic disorder of the neurotransmitter group caused by mutations in the DDC gene, characterized by impaired production of neurotransmitters such as dopamine, serotonin, norepinephrine, and adrenaline. As a result of their deficiency, children develop and rapidly progress to such basic clinical manifestations as gross delay in motor and psychore-speech development, episodes of oculogyric crises (episodically occurring con-current deviation of the eyes up, laterally and/or down lasting from several minutes to several hours) of varying severity and frequency, as well as a whole range of autonomic symptoms. Currently gene therapy is used in the Russian Federation for the treatment of this disease. In this regard, the problem of establishing/verifying a diagnosis for the treatment of patients with aromatic L-amino acid decarboxylase deficiency becomes particularly relevant.