Fast Five Quiz: Aromatic L-amino Acid Decarboxylase Deficiency (AADCD) Clinical Characteristics

Stephen L. Nelson, Jr, MD, PhD


August 13, 2021

Classic clinical characteristics of AADCD are:

  • low levels of HVA, 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG)

  • normal pterins, including neopterin and biopterin

  • high concentrations of 3-O-methyldopa (3-OMD), levodopa (L-Dopa), and 5-HTP

There are no reports of growth hormone deficiency, thyroid deficiency, or other hormone deficiencies in the literature to date.

Learn more about clinical characteristics of AADCD.


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