Aromatic L-Amino Acid Decarboxylase (AADC) DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
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.
St. Vincent Neurosurgery
Javier Echeverri is a Neurologist practicing medicine in Billings, Montana. He has been practicing medicine for over 47 years. Dr. Echeverri is rated as an Advanced provider by MediFind in the treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Essential Tremor, Parkinson's Disease, Movement Disorders, Epilepsy with Myoclonic-Atonic Seizures, and Deep Brain Stimulation. Dr. Echeverri is currently accepting new patients.
Atrium Health Neurology Specialty Care, A Facility Of Carolinas Medical Center
Danielle Doggett is a Neurologist practicing medicine in Charlotte, North Carolina. Dr. Doggett is rated as an Advanced provider by MediFind in the treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Parkinson's Disease, Movement Disorders, Essential Tremor, Drug Induced Dyskinesia, and Deep Brain Stimulation. Dr. Doggett is board certified in American Board Of Psychiatry And Neurology. Dr. Doggett is currently accepting new patients.
Aurora Neuroscience Innovation
Taylor Finseth is a Neurologist practicing medicine in Milwaukee, Wisconsin. Dr. Finseth is rated as an Advanced provider by MediFind in the treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Camptocormism, Parkinson's Disease, Movement Disorders, and Conversion Disorder. Dr. Finseth is board certified in American Board Of Psychiatry & Neurology.
Summary: The overall objective of this study is to determine the safety and efficacy of AAV2-hAADC delivered to the substantia nigra pars compacta (SNc) and ventral tegmental area (VTA) in children with aromatic L-amino acid decarboxylase (AADC) deficiency.
Published Date: May 13, 2024
Published By: National Institutes of Health