Aromatic L-amino acid decarboxylase deficiency

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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 Data version December 2023

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Aromatic L-amino acid decarboxylase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.