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Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z.

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

Author information

1
Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
2
Department of Clinical Biochemistry, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
3
Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
4
Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.
5
Department of Child Neurology, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
6
First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.
7
Department of Neurology, Washington University School of Medicine, St. Louis, USA.
8
Department of Pediatrics and Child Neuropsychiatry, Sapienza Università di Roma, Rome, Italy.
9
Department of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
10
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
11
Developmental Neurosciences, UCL- Institute of Child Health and Department of Neurology, Great Ormond Street Hospital for Children NHS Foundations Trust, London, UK.
12
Laboratory Medicine, Great Ormond Street Hospital and Neurometabolic Unit, National Hospital, London, UK.
13
AADC research trust, London, UK.
14
Department Laboratory Medicine, Alzheimer Centre, Radboud university medical center, Nijmegen, The Netherlands.
15
Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de.

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.

KEYWORDS:

AADC deficiency; Aromatic l-amino acid decarboxylase deficiency; Dopamine; GRADE; Guideline; Infantile dystonia-parkinsonism; Neurotransmitter; SIGN; Serotonin

PMID:
28100251
PMCID:
PMC5241937
DOI:
10.1186/s13023-016-0522-z
[Indexed for MEDLINE]
Free PMC Article

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