Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management

Stephen L. Nelson, Jr, MD, PhD


September 18, 2020

BH4 deficiency presents in a similar way to AADC deficiency. It usually presents within the first 6 months of life. Developmental delays can occur, and severe cases can be characterized by hypotonia of the trunk, hypertonia of the limbs, hypokinesia, athetosis, seizures, and swallowing difficulties. Normal levels of CSF pterins (neopterin, dihydrobiopterin, and BH4) are essential for the differentiation of AADC deficiency from BH4 disorders.

Other disorders that may mimic AADC deficiency include sepiapterin reductase deficiency, succinic semialdehyde dehydrogenase deficiency, tyrosine hydroxylase deficiency, and cerebral palsy. Although they are also rare genetic disorders, the presentations of Gaucher disease, mucopolysaccharidosis, and alpha-1 antitrypsin deficiency are distinct from that of AADC deficiency.

Learn more about the differential diagnosis of AADC deficiency.


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