Aromatic L-amino acid decarboxylase deficiency
Synonyms: AADC deficiency
A rare severe genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine noradrenaline adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia movement disorders (oculogyric crisis dystonia) developmental delay ptosis and non-motor symptoms (sleep disturbance irritability excessive sweating and nasal congestion).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Aromatic L-amino acid decarboxylase deficiency?
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Advocacy Organizations
AADC Family Network
The foundation was established for the charitable and educational purposes of providing research, medical assistance, support and awareness and to participate in all services and activities designed to carry out and find a CURE for AADC.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Special Education Teaching and Learning Inc.
Educational support for families in the rare disease, undiagnosed disease, and special needs community.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Teach RARE
To provide educational activities and support for families of rare diseases, undiagnosed diseases, and special needs. In addition, we create awareness about rare diseases and seek to improve early diagnosis and treatment opportunities.
Clinical Trials
For a list of clinical trials in this disease area, please click here.