AR 128: Relative to Aromatic L-Amino Acid Decarboxylase Deficiency Awareness Day.

WHEREAS, A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time; and

WHEREAS, There are more than 10,000 rare diseases. Altogether, rare diseases affect an estimated 30,000,000 Americans; and

WHEREAS, Many rare diseases are serious, chronic, and often life-threatening or severely debilitating, impacting not only patients, but also their families and caregivers, and many of these diseases lack effective or approved treatments; and

WHEREAS, Aromatic L-amino acid decarboxylase (AADC) deficiency is an ultrarare, life-limiting, severely debilitating genetic neurologic condition that significantly impacts a patient’s development, motor skills, growth, and cognitive and language skills from birth; and

WHEREAS, AADC deficiency results from an inherited genetic disease where patients lack the AADC enzyme that is required to create dopamine. Without dopamine, patients will never achieve motor milestones like holding their heads up, sitting, or standing, or develop the ability to communicate or perform the most basic of life’s needs; and

WHEREAS, Patients suffering from AADC deficiency often present in infancy with symptoms that include severe developmental delays, hypotonia, otherwise known as low muscle tone, that is unexplained and not improving, oculogyric crises, which are involuntary eye movements, feeding difficulties, and autonomic dysfunction. Patients are often misdiagnosed, and an accurate diagnosis must be confirmed through genetic and biochemical testing; and

WHEREAS, Although AADC deficiency remains extremely rare, with several hundred cases identified worldwide, increased awareness and advances in genetic testing and emerging therapies, including gene therapy, are improving diagnosis and treatment prospects; and

WHEREAS, Caregivers of individuals with AADC deficiency face significant emotional, physical, and financial challenges and often provide comprehensive, lifelong care; and

WHEREAS, Increased awareness among health care providers, policymakers, and the public can support earlier diagnosis, improved care, and continued research into treatments for AADC deficiency; now, therefore, be it

Resolved by the Assembly of the State of California, That the Assembly designates October 23, 2026, as Aromatic L-Amino Acid Decarboxylase Deficiency Awareness Day, and encourages Californians to become better informed about, and aware of, AADC deficiency; and be it further

Resolved, That the Chief Clerk of the Assembly transmit copies of this resolution to the author for appropriate distribution.