Aromatic L-amino acid decarboxylase deficiency – disease under the masks of cerebral palsy and epilepsy

Abstract

Aromatic L‑amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. The disease manifests in early childhood with nonspecific symptoms such as hypotension, movement disorders (oculogyric crisis, dystonia, hypokinesia), developmental delay and vegetative symptoms.Currently, diagnostic criteria for this disease have been determined, as well as possible options for correcting the patient’s condition. However, often, the no specificity of AADC deficiency symptoms leads to a significant delay in diagnosis or even misdiagnosis in patients with AADC deficiency. Identification of patients with AADC deficiency will improve their quality of life due to possible syndromic treatment, facilitate their care and prolong life. In the absence of a correct diagnosis, children with AADC deficiency may be observed for a long time with diagnoses such as cerebral palsy or epilepsy and receive therapy that has no therapeutic effect or may lead to a worsening of the symptoms of the underlying disease.