Phenylketonuria and BH4 Deficiencies

01.08.2010

Englisch

9783837412383

UNI-MED

UNI-MED Science

Nein

Nenad Blau

80

1

Gebundene Ausgabe

1. Introduction 10 1.1. Historical background 10 1.2. Epidemiology 11 1.3. Classification and nomenclature of PKU 11 1.4. References 12 2. Pathobiochemistry of Phenylketonuria 14 2.1. Phenylalanine hydroxylating system 14 2.2. Tetrahydrobiopterin 15 2.3. References 17 3. Clinical Presentation, Pathophysiology and Outcome 20 3.1. PKU due to PAH deficiency 20 3.1.1. Physical characteristics of patients with PKU 20 3.1.2. Neurocognitive deficits in PKU 20 3.1.3. Maternal PKU 24 3.1.4. Assessment of a child with PKU 25 3.2. BH4 deficiencies 25 3.2.1. Clinical features 25 3.2.2. Developmental outcomes 27 3.3. References 27 4. Diagnosis of Hyperphenylalaninaemias 32 4.1. Newborn screening 32 4.1.1. History of newborn screening 32 4.1.2. Screening methods 33 4.1.3. General issues relating to screening 33 4.2. Differential diagnosis of PKU 34 4.2.1. Disorders of BH4 synthesis and recycling (BH4 deficiency) 34 4.2.2. BH4-responsive HPA/PKU 36 4.3. References 40 5. Treatment 44 5.1. PKU due to phenylalanine hydroxylase deficiency 44 5.1.1. Diet 44 5.1.2. Tetrahydrobiopterin (BH4) 50 5.1.3. Other treatments 52 5.2. Tetrahydrobiopterin deficiencies 53 5.3. References 57 6. Molecular Genetics 62 6.1. PAH mutations 62 6.1.1. Mendelian inheritance 62 6.1.2. Genotype and severity of PKU 62 6.2. BH4 deficiencies 65 6.2.1. Overview 65 6.2.2. GCH1 65 6.2.3. PTS 66 6.2.4. QDPR 66 6.2.5. SPR 67 6.2.6. PCBD 67 6.3. References 67 7. Resources for Patients and their Families 70 7.1. PKU Societies 70 7.2. Online information resources 77 7.3. Manufacturers and/or suppliers of special foods for use in PKU 77 7.4. Books 78 Index 79

240 mm

17 cm