Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Journal
Orphanet Journal of Rare Diseases
Journal Volume
12
Journal Issue
1
Pages
12
Date Issued
2017
Author(s)
Wassenberg T.
Molero-Luis M.
Jeltsch K.
Hoffmann G.F.
Assmann B.
Blau N.
Garcia-Cazorla A.
Artuch R.
Pons R.
Pearson T.S.
Leuzzi V.
Mastrangelo M.
Pearl P.L.
Kurian M.A.
Heales S.
Flint L.
Verbeek M.
Willemsen M.
Opladen T.
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. ? 2016 The Author(s).
Subjects
AADC deficiency; Aromatic l-amino acid decarboxylase deficiency; Dopamine; GRADE; Guideline; Infantile dystonia-parkinsonism; Neurotransmitter; Serotonin; SIGN
SDGs
Other Subjects
5 hydroxytryptophan; aromatic levo amino acid decarboxylase; benzodiazepine derivative; carbidopa plus levodopa; catechol methyltransferase inhibitor; cholinergic receptor blocking agent; dopamine; dopamine receptor stimulating agent; epinephrine; folinic acid; levodopa; melatonin; monoamine oxidase inhibitor; noradrenalin; pyridoxal 5 phosphate; pyridoxine; serotonin; serotonin uptake inhibitor; aromatic levo amino acid decarboxylase; prolactin; aromatic levo amino acid decarboxylase deficiency; autonomic neuropathy; autosomal recessive disorder; awareness; clinical examination; consensus; developmental disorder; diagnostic imaging; disease severity; dystonia; electroencephalography; enzyme deficiency; evidence based medicine; gene therapy; health promotion; human; hypokinesia; international cooperation; laboratory diagnosis; metabolic disorder; muscle hypotonia; oculogyric crisis; onset age; patient assessment; practice guideline; prenatal diagnosis; rare disease; Review; speech disorder; surgical technique; symptom; systematic review; blood; cerebrospinal fluid; deficiency; disorders of amino acid and protein metabolism; practice guideline; Age of Onset; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Cholinergic Antagonists; Dopamine Agonists; Guidelines as Topic; Humans; Monoamine Oxidase Inhibitors; Prolactin; Pyridoxal Phosphate
Publisher
BioMed Central Ltd.
Type
review