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.

1. Recognizing Disorders of Biogenic Amines: An Introduction 121.1. Introduction 121.2. Signs and Symptoms 121.3. Laboratory Findings 131.4. References 172. Biochemistry of Biogenic Amines 202.1. References 233. Tetrahydrobiopterin Deficiencies Presenting with Hyperphenylalaninemia 263.1. Introduction 263.2. Signs and Symptoms 263.3. Laboratory Findings 273.4. Treatment Options 283.5. Drugs to Avoid 293.6. References 294. Co-chaperone DNAJC12 Deficiency 324.1. Introduction 324.2. Signs and Symptoms 324.3. Laboratory Findings 334.4. Treatment Options 334.5. References 335. Autosomal Dominant Dopa-Responsive Dystonia 365.1. Introduction 365.2. Signs and Symptoms 365.3. Laboratory Findings 375.4. Treatment Options 385.5. References 406. Sepiapterin Reductase Deficiency 446.1. Introduction 446.2. Signs and Symptoms 446.3. Laboratory Findings 456.4. Treatment Options 466.5. References 487. Tyrosine Hydroxylase Deficiency 507.1. Introduction 507.2. Signs and Symptoms 507.3. Laboratory Findings 507.4. Treatment Options 517.5. References 528. Aromatic L-Amino Acid Decarboxylase Deficiency 548.1. Introduction 548.2. Signs and Symptoms 548.3. Laboratory Findings 558.4. Treatment Options 558.5. References 579. Dopamine and Serotonin Transport Disorders 609.1. Introduction 609.2. Signs and Symptoms 609.3. Laboratory Findings 609.4. Treatment Options 619.5. References 6310. Defects in Catabolism of Biogenic Amines 6610.1. Introduction 6610.2. Signs and Symptoms 6610.3. Laboratory Findings 6610.4. Treatment Options 6710.5. References 6711. Dopamine Beta Hydroxylase Deficiency 7011.1. Introduction 7011.2. Signs and Symptoms 7011.3. Laboratory Findings 7011.4. Treatment Options 7111.5. References 7112. Resources for Professionals, Patients and their Families 7412.1. International Working Group on Neurotransmitter Related Disorders 7412.2. The AADC Research Trust (Trust) 7412.3. IEMbase: A Knowledgebase of Inborn Errors of Metabolism 7512.4. National Organization for Rare Disorders (NORD) 76Index 79