Disorders of biogenic amines have been recognized as important causes of severe, progressive encephalopathies mostly of early onset. The past decade has seen immense progress, unravelling of new diseases, as well as major advantages in diagnostics and patient care, with gene therapy just begun.
The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF. Whilst the majority of the identified disorders are due to inherited enzyme deficiencies, defects in transport of active compounds have also been reported. There is still widespread uncertainty about when to perform specialized CSF investigations and what to investigate. Next generation sequencing is now starting to complement CSF analysis and will take a greater role in the primary diagnostics in the future.
The main focus of this book is the clinical and biochemical approach to these disorders. We wanted to provide key information and recommendations on therapy, monitoring and follow-up and hope for quicker and improved therapy and by that outcome of affected individuals.
Table of Content
1. Recognizing Disorders of Biogenic Amines: An Introduction 12
1.1. Introduction 12
1.2. Signs and Symptoms 12
1.3. Laboratory Findings 13
1.4. References 17
2. Biochemistry of Biogenic Amines 20
2.1. References 23
3. Tetrahydrobiopterin Deficiencies Presenting with Hyperphenylalaninemia 26
3.1. Introduction 26
3.2. Signs and Symptoms 26
3.3. Laboratory Findings 27
3.4. Treatment Options 28
3.5. Drugs to Avoid 29
3.6. References 29
4. Co-chaperone DNAJC12 Deficiency 32
4.1. Introduction 32
4.2. Signs and Symptoms 32
4.3. Laboratory Findings 33
4.4. Treatment Options 33
4.5. References 33
5. Autosomal Dominant Dopa-Responsive Dystonia 36
5.1. Introduction 36
5.2. Signs and Symptoms 36
5.3. Laboratory Findings 37
5.4. Treatment Options 38
5.5. References 40
6. Sepiapterin Reductase Deficiency 44
6.1. Introduction 44
6.2. Signs and Symptoms 44
6.3. Laboratory Findings 45
6.4. Treatment Options 46
6.5. References 48
7. Tyrosine Hydroxylase Deficiency 50
7.1. Introduction 50
7.2. Signs and Symptoms 50
7.3. Laboratory Findings 50
7.4. Treatment Options 51
7.5. References 52
8. Aromatic L-Amino Acid Decarboxylase Deficiency 54
8.1. Introduction 54
8.2. Signs and Symptoms 54
8.3. Laboratory Findings 55
8.4. Treatment Options 55
8.5. References 57
9. Dopamine and Serotonin Transport Disorders 60
9.1. Introduction 60
9.2. Signs and Symptoms 60
9.3. Laboratory Findings 60
9.4. Treatment Options 61
9.5. References 63
10. Defects in Catabolism of Biogenic Amines 66
10.1. Introduction 66
10.2. Signs and Symptoms 66
10.3. Laboratory Findings 66
10.4. Treatment Options 67
10.5. References 67
11. Dopamine Beta Hydroxylase Deficiency 70
11.1. Introduction 70
11.2. Signs and Symptoms 70
11.3. Laboratory Findings 70
11.4. Treatment Options 71
11.5. References 71
12. Resources for Professionals, Patients and their Families 74
12.1. International Working Group on Neurotransmitter Related Disorders 74
12.2. The AADC Research Trust (Trust) 74
12.3. IEMbase: A Knowledgebase of Inborn Errors of Metabolism 75
12.4. National Organization for Rare Disorders (NORD) 76
Index 79
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