Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Abstract

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease.

• Authors: Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 12 Issue 1 Pg. 12 (01 18 2017) ISSN: 1750-1172 [Electronic] England
• PMID: 28100251 (Publication Type: Journal Article, Review, Research Support, Non-U.S. Gov't)

Chemical References

• Cholinergic Antagonists
• Dopamine Agonists
• Monoamine Oxidase Inhibitors
• Pyridoxal Phosphate
• Prolactin
• Aromatic-L-Amino-Acid Decarboxylases

Topics

• Age of Onset
• Amino Acid Metabolism, Inborn Errors (blood, cerebrospinal fluid, diagnosis, therapy)
• Aromatic-L-Amino-Acid Decarboxylases (blood, cerebrospinal fluid, deficiency)
• Cholinergic Antagonists (therapeutic use)
• Dopamine Agonists (therapeutic use)
• Guidelines as Topic
• Humans
• Monoamine Oxidase Inhibitors (therapeutic use)
• Prolactin (blood, cerebrospinal fluid)
• Pyridoxal Phosphate (therapeutic use)