Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way nerve cells (neurons) transmit information to other cells.

Variants (also called mutations) in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which plays an important role in the nervous system. Within neurons, the AADC enzyme helps produce dopamine and serotonin, which are two types of neurotransmitters. Neurotransmitters are chemical messengers that transmit important signals from neurons to other cells in the body. Dopamine can be used to create additional neurotransmitters called epinephrine and norepinephrine.

AADC deficiency is a rare disorder. Approximately 350 people with this condition have been reported in the literature. The condition is more prevalent in certain Asian populations, particularly among people from Taiwan, Japan, and China.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: May 13, 2024
Published By: National Institutes of Health