Aromatic L-amino acid decarboxylase deficiency

This code identifies Aromatic L-amino acid decarboxylase (AADC) deficiency, a rare inherited neurometabolic disorder affecting the synthesis of neurotransmitters like dopamine, norepinephrine, epinephrine, and serotonin. It results from a defect in the DOPA decarboxylase enzyme, leading to a wide range of neurological symptoms.

Assign this code for patients diagnosed with AADC deficiency, typically presenting with developmental delay, hypotonia, oculogyric crises, autonomic dysfunction, and movement disorders. Documentation should confirm the diagnosis through genetic testing identifying pathogenic variants in the DDC gene or biochemical testing showing reduced AADC enzyme activity.

• Ensure documentation specifies AADC deficiency and not other neurotransmitter disorders.
• Consider co-occurring neurological manifestations and code them separately if clinically significant.
• This is a primary diagnosis code for the underlying genetic condition.