Congenital neurotransmitter disorders : a clinical approach [E-Book]

Includes bibliographical references and index.

Description based on print version record.

CONGENITAL NEUROTRANSMITTER DISORDERS: A CLINICAL APPROACH; CONGENITAL NEUROTRANSMITTER DISORDERS: A CLINICAL APPROACH; Library of Congress Cataloging-in-Publication Data; Disclaimer; Contents; In Memory of Robert Surtees; Preface; List of Disorders; List of Authors; Chapter 1: Signs and Symptoms of Neurotransmitter Disorders: Approach to Diagnosis; Abstract; Introduction; Clinical Presentations; Early-Onset Epileptic Encephalopathies; Progressive Extrapyramidal Movement Disorders; Diagnostic Approach; Blood and Urine First; Investigations in CSF; Outlook; References.

Chapter 2: L-Dopa-Responsive Dystonia SyndromesAbstract; Introduction; Disease Characteristics; GTP Cyclohydrolase Deficiency; Clinical Findings; Carrier Findings; Biochemical, Genetic and Other Findings; GTP Cyclohydrolase Deficiency; Sepiapterin Reductase Deficiency; Disease Mechanisms; Management; Diagnosis; Pharmacologic Therapy; Specific Agents; Levodopa (L-Dopa)/carbidopa; 5-Hydroxytryptophan (5HTP)/Carbidopa; Tetrahydrobiopterin (BH4); Optional Pharmacological Therapy (SRD and GTPCHD); Monamine Oxidase Inhibitors (MAOI); Serotonin Re-uptake Inhibitors (SSRI's); Melatonin.

Dopamine AgonistsAnticholinergics; Methylphenidate; Lioresal; Pitfalls; Contraindications; Long Term Management and Monitoring; Outcome; References; Chapter 3: Tetrahydrobiopterin Disorders Presenting with Hyperphenylalaninemia; Abstract; Disease Characteristics; Clinical Findings; Disease Mechanisms; Management; Diagnosis; Treatment; Diet; Neurotransmitter Replacement; Folinic Acid Supplementation; Outcomes; References; Chapter 4: Tyrosine Hydroxylase Deficiency; Abstract; Disease Characteristics; Clinical Findings; Biochemical and Genetic Findings; Disease Mechanisms; Management; Diagnosis.

TherapyL-Dopa; MAO Inhibitors; Management of L-Dopa Induced Dyskinesias (Table 4); Symptomatic Treatment; Other Therapeutic Strategies; Monitoring of Treatment; Agents/Circumstances to Avoid; Outcome; References; Chapter 5: Aromatic L-Amino Acid Decarboxylase Deficiency; Abstract; Disease Characteristics; Clinical Findings; Psychiatric Disorders in Carriers; Biochemical and Genetic Findings; Disease Mechanisms; Management; Outcome; References; Chapter 6: The Monoamine Transportopathies; Abstract; Disease Characteristics; Clinical Findings; Biochemical and Genetic Findings; Disease Mechanisms.

ManagementDiagnosis; General Therapeutic Measures; Specific Medications; Outcome; References; Chapter 7: Defects in Catabolism of Biogenic Amines; Abstract; Disease Characteristics; Clinical Findings; Isolated Monoamine Oxidase-A Deficiency; Monoamine Oxidase Deficiency Associated with Norrie Disease; Combined Monoamine Oxidase-A and B Deficiency; Biochemical and Genetic Findings; Disease Mechanisms; Management; Diagnosis; Treatment; Outcome; References; Chapter 8: Nonketotic Hyperglycinemia; Abstract; Introduction; Biochemistry, Definition, and Classification; Clinical Characteristics.

Congenital neurotransmitter disorders are nowadays recognized as important causes of severe, progressive encephalopathies mostly of early onset. They are ultraorphan diseases and numerous experiences confirm again and again that diagnosis and treatment of patients is often almost regularly delayed for many years, if ever at all. Specific therapeutic approaches which can lead to excellent outcomes, especially if instituted early, are thereby withheld from patients and their families. The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measureme.

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