inherited disorders of biogenic amines: a practical guide
TRANSCRIPT
Inherited Disordersof Biogenic Amines:A Practical Guide
Inherited Disordersof Biogenic Amines:A Practical Guide
Nenad BlauGeorg F. Hoffmann
in collaboration withRafael Artuch, Birgit E. Assmann,Heiko Brennenstuhl, Stine Christ,Jennifer Friedman, Angels García-Cazorla,Keith Hyland, Manju A. Kurian,Thomas Opladen, Roser Pons,Manuel Schiff, Marcel M. Verbeek,Tessa Wassenberg
SCIENCE
UNI-MED Verlag AGBremen - London - Boston
Inherited Disordersof Biogenic Amines:A Practical Guide
Blau, Nenad:Inherited Disorders of Biogenic Amines: A Practical Guide/Nenad Blau and Georg F. Hoffmann.–1st edition - Bremen: UNI-MED, 2020(UNI-MED SCIENCE)ISBN 978-3-8374-5595-3
© 2020 by UNI-MED Verlag AG, D-28323 Bremen,International Medical Publishers (London, Boston)Internet: www.uni-med.de, e-mail: [email protected]
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Preface and acknowledgements
The first cases of children with a form of phenylketonuria that was accompanied by a complex severe pro-gressive neurologic illness unresponsive to dietary treatment were reported in the 1970s. It was already hy-pothesized that these children lacked tetrahydrobiopterin, the cofactor required not only for the enzyme,phenylalanine hydroxylase, but also for tyrosine hydroxylase and tryptophan hydroxylase, the rate-limiting enzymes in the biosynthetic pathways for biogenic amines, catecholamine neurotransmitters,and serotonin. Thereafter, a plethora of primary defects in the metabolism of biogenic amines, leading toneurotransmitter imbalances, were discovered.
Increased understanding of these concepts led to the development of specific pharmacologic treatmentsfor some of these diseases, although this was very limited at first. In general, the disease would take itscourse and genetic counseling was virtually all that could be offered. In recent years, new genetic and met-abolic techniques have underpinned amazing progress in diagnostic approaches and, crucially, a muchbetter understanding of the underlying pathophysiology. New and successful therapeutic approacheshave followed, including intracerebral gene therapy.
The “Working Group on Neurotransmitter-related Disorders”, together with lay support groups, movedthis field forward so quickly that we saw a need for a concise, specific, but comprehensive and up-to datereference resource on inherited disorders of biogenic amines. In this book, we have sought to combinebrief, but solid, information on the biochemical and molecular background of these disorders, togetherwith a description of their clinical presentation, treatment, monitoring and disease course. We hope youfind our book interesting, informative and useful.
Heidelberg, August 2020 Nenad BlauGeorg F. Hoffmann
Authors
Rafael ArtuchDepartment of Clinical BiochemistryInstitut de Recerca Sant Joan de DéuCenter for Biomedical Research on RareDiseases (CIBERER)[email protected]
Chapter 7.
Birgit E. AssmannDivision for Child Neurology and Metabolic MedicineUniversity Children’s HospitalIm Neuenheimer Feld 43069120 [email protected]
Chapter 8., 9.
Nenad BlauDietmar-Hopp Metabolic CenterUniversity Children’s HospitalIm Neuenheimer Feld 66919120 HeidelbergGermany
and
Division of MetabolismUniversity Children’s Hospital ZurichSteinwiesstrasse 758032 [email protected]
Chapter 1., 3., 4., 10.
Heiko BrennenstuhlDivision for Child Neurology and Metabolic MedicineUniversity Children’s HospitalIm Neuenheimer Feld 43069120 [email protected]
Chapter 2.
Stine ChristDivision for Child Neurology and Metabolic MedicineUniversity Children’s HospitalIm Neuenheimer Feld 43069120 [email protected]
Chapter 2.
Jennifer FriedmanNeurosciences and Pediatrics UCSDRady Children’s Hospital San DiegoRady Children’s Institute for Genomic Medicine8001 Frost St.San Diego, CA [email protected]
Chapter 5., 6.
Angels García-CazorlaDepartment of Clinical Biochemistry and Pediatric NeurologyInstitut de Recerca Sant Joan de DéuCenter for Biomedical Research on Rare Diseases (CIBERER)[email protected]
Chapter 7.
Georg F. HoffmannDivision for Child Neurology and Metabolic MedicineUniversity Children’s HospitalIm Neuenheimer Feld 43069120 [email protected]
Chapter 1., 3., 8., 10.
Keith HylandMedical Neurogenetics LaboratoriesAtlanta, [email protected]
Chapter 10.
Manju A. KurianDevelopmental NeurosciencesUCL GOS Institute of Child Health and Department of NeurologyGreat Ormond Street Hospital for Children NHS Foundations TrustLondonUnited [email protected]
Chapter 9.
Thomas OpladenDivision for Child Neurology and Metabolic MedicineUniversity Children’s HospitalIm Neuenheimer Feld 43069120 [email protected]
Chapter 5., 6.
Roser PonsFirst Department of PediatricsPediatric Neurology UnitAgia Sofia HospitalNational and Kapodistrian University of [email protected]
Chapter 7.
Manuel SchiffNecker Hospital, APHPReference Center for Inborn Error of MetabolismPediatrics DepartmentUniversity of ParisFilière G2MParisFrance
and
Inserm UMR_S1163Institut [email protected]
Chapter 4.
Marcel M. VerbeekRadboud University Medical CenterDepartment of NeurologyDonders Institute for Brain Cognition and BehaviourDepartment of Laboratory MedicineTranslational Metabolic LaboratoryNijmegenThe [email protected]
Chapter 11.
Tessa WassenbergUZ Brussel VUBDepartment of PediatricsPediatric Neurology [email protected]
Chapter 11.