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

Stephen L. Nelson, Jr, MD, PhD

Disclosures

August 13, 2021

AADCD can be diagnosed with the identification of severely decreased AADC activity in plasma.

In fact, even in heterozygous carriers, plasma AADC activity is reduced. Using L-Dopa as substrate is the standard method of measuring AADC activity as it gives a higher analytical yield than does 5-OH tryptophan (5-HTP).

Catecholamine metabolites in the blood are not useful in routine clinical practice; this measure neither diagnoses nor excludes AADCD.

With no distinctive MRI pattern, imaging is generally not beneficial in the workup of AADCD, but it should be performed in patients with neurodevelopmental delay to exclude other conditions in the differential.

Although increased prolactin in the blood has been seen in AADCD patients, normal levels do not exclude AADCD.

Learn more about AADCD diagnosis.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.

processing....