Use

Aromatic L-amino acid Decarboxylase Enzyme Analysis (ENZ01) is used for the diagnosis of Aromatic L-amino acid decarboxylase (AADC) deficiency. Aromatic Lamino acid Decarboxylase Enzyme Analysis (ENZ01) may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). AADC deficiency is a rare autosomal recessive disorder of neurotransmitter synthesis. Clinical manifestations include severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability and sleep disorders. L-dopa is used to treat several childhood-onset monoamine neurotransmitter disorders where dopamine deficiency results from either impaired dopamine or pterin synthesis, with the aim of increasing central dopamine levels. Knowledge and understanding of the specific neurotransmitter disorder being treated is paramount, as L-dopa is not indicated in all monoamine neurotransmitter disorders. It is considered inappropriate for the vast majority of aromatic l-amino acid decarboxylase (AADC) deficiency patients and not used in dopamine transporter deficiency syndrome (DTDS).