Inborn errors of metabolism: early detection, key symptoms and therapeutic options
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| Main Author: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Bremen [u.a.]
UNI-MED-Verl.
2008
|
| Edition: | 1. ed. |
| Series: | UNI-MED science
|
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | 124 S. Ill., graph. Darst. 25 cm |
| ISBN: | 9783837410785 9781848151390 |
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Record in the Search Index
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Titel: Inborn errors of metabolism
Autor: Mayatepek, Ertan
Jahr: 2008
8 Contents
Contents
^| Newborn screening 12
If Diagnostic procedures 16
2.1. Biochemical investigations 16
2.2. Biopsies, enzymology, histopathology 18
2.3. Mutation analyses 18
2.4. Function tests 18
2.5. Neuroradiological investigations 19
2.6. Postmortem investigations 19
U Biochemical key symptoms 22
3.1. Hyperammonaemia 22
3.2. Hypoglycaemia 24
3.3. Metabolic acidosis 25
3.4. Hyperlactataemia 25
^J Clinical key symptoms 30
4.1. The critically ill neonate - metabolic emergencies in the neonate 30
4.2. Acute and chronic encephalopathies 30
4.3. Psychomotor retardation 32
4.4. Movement disorders 34
4.5. Cardiomyopathy 36
4.6. Dysmorphias 36
4.7. Hepatopathy 37
4.8. Non-immune fetal hydrops 41
4.9. Psychiatric symptoms 41
4.10. Ophthalmological problems 43
gH Selection of metabolic diseases (symptoms, diagnosis, treatment) 46
5.1. Phenylketonuria (PKU) 46
5.2. Maple syrup urine disease (MSUD) 48
5.3. Tyrosinaemia type I 50
5.4. Disorders of methionine and homocysteine metabolism 51
5.4.1. Classical homocystinuria 52
5.4.2. Methylene tetrahydrofolate reductase (MTHFR) deficiency 53
5.4.3. Sulphite oxidase deficiency and molybdenum cofactor deficiency 53
5.5. Non-ketotic hyperglycinaemia 54
5.6. Urea cycle defects 54
5.7. Organic acidurias 58
5.7.1. Propionic aciduria 58
5.7.2. Methylmalonic aciduria 59
5.7.3. Isovaleric aciduria 60
5.7.4. Glutaric aciduria type 1 60
5.8. Disorders of biotin metabolism 62
Contents 9
5.9. Mitochondrial disorders 63
5.10. Disorders of fatty acid oxidation, ketogenesisand ketolysis 67
5.10.1. Carnitine-transporter defect (organic cation camitine transporter defect, OCTN2) 67
5.10.2. Camitine palmitoyl-CoA transferase 1 (CPT1) deficiency 68
5.10.3. Carnitine/acylcarnitine translocase (CACT) deficiency 68
5.10.4. Camitine palmitoyl-CoA transferase 2 (CPT 2) deficiency 69
5.10.5. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency 69
5.10.6. Mitochondrial trifunctional protein (TFP) deficiency, long-chain 3-hydroxy-acyl-CoA
dehydrogenase (LCHAD) deficiency, long-chain 3-ketoacyl-CoA thiolase (thiolase) deficiency 70
5.10.7. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 71
5.10.8. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency 71
5.10.9. Multiple acyl-CoA dehydrogenase (MAD) deficiency (or electron transfer defect, ETF/ETF-DH, or
glutaric aciduria type II) 73
5.10.10. 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency 73
5.10.11. 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency 73
5.11. Disturbances of carbohydrate metabolism 75
5.11.1. Classical galactosaemia 75
5.11.2. Hereditary fructose intolerance (HFI) 76
5.11.3. Glycogen storage diseases (GSD) 78
5.11.3.1. Glycogenosis I (GSD I, von Gierke's disease) 78
5.11.3.2. Glycogenosis III (GSD III) 80
5.11.3.3. Glycogenosis V (GSD V, McArdle's disease) 81
5.11.3.4. Glycogenosis IX (GSD IX) 81
5.12. Congenital hyperinsulinism 82
5.13. Lysosomal storage diseases (LSD) 83
5.13.1. Gaucher's disease 83
5.13.2. Fabry's disease (Anderson-Fabry's disease, Angiokeratoma corporis diffusum) 84
5.13.3. Mucopolysaccharidosis I (MPS I, Hurler's disease, Scheie's disease, Hurler-Scheie's disease) 85
5.13.4. Mucopolysaccharidosis II (MPS II, Hunter's disease) 87
5.14. Cystinosis 87
5.15. Disorders of peroxisomal metabolism 88
5.15.1. Group I: Disorders of peroxisome biogenesis 89
5.15.2. Group II: Isolated defects of peroxisomal pathways 90
5.15.3. Group III: Rhizomelic chondrodysplasia punctata 91
5.16. Congenital disorders of glycosylation (CDG) 91
5.16.1. CDG-la 92
5.16.2. CDG-lb 93
5.16.3. CDG-llc 93
5.17. Wilson's disease 93
5.18. Disorders of purine and pyrimidine metabolism 94
5.18.1. Increased production of uric acid 94
5.18.2. Reduced production of uric acid 96
5.18.3. Increased excretion of uric acid 96
5.18.4. Therapeutic options in disorders of purine and pyrimidine metabolism 96
5.19. Porphyrias 96
5.20. Disorders of creatine metabolism 97
5.20.1. Guanidinoacetate methyltransferase (GAMT) deficiency 98
5.20.2. Arginine:glycine-amidinotransferase (AGAT) deficiency 98
5.20.3. Creatine transporter deficiency "
10 Contents
5.21. Hyperlipidaemia 99
5.21.1. Hypercholesterolaemia 99
5.21.2. Mixed hyperlipidaemia 101
5.21.2.1. Familiar combined hyperlipidaemia 101
5.21.2.2. Familial dysbetalipoproteinaemia 102
5.21.3. Hypertriglyceridaemia 102
5.21.3.1. Familial hypertriglyceridaemia 102
5.21.3.2. Hyperchylomicronaemia 102
^| Tables - special metabolic investigations, dietetic treatment, emergency
medication 106
^J Literature and internet links 114
7.1. General literature 114
7.2. Internet links 114
|^J Abbreviations 118
^| Index 120 |
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| indexdate | 2025-01-07T11:03:12Z |
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| isbn | 9783837410785 9781848151390 |
| language | English |
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| physical | 124 S. Ill., graph. Darst. 25 cm |
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| spelling | Mayatepek, Ertan Verfasser (DE-588)13349005X aut Inborn errors of metabolism early detection, key symptoms and therapeutic options [Ertan Mayatepek. In collab. with Birgit Assmann ...] 1. ed. Bremen [u.a.] UNI-MED-Verl. 2008 124 S. Ill., graph. Darst. 25 cm txt rdacontent n rdamedia nc rdacarrier UNI-MED science Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Paralle Sprachausgabe deutsch Mayatepek, Ertan Angeborene Stoffwechselkrankheiten HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017119470&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Mayatepek, Ertan Inborn errors of metabolism early detection, key symptoms and therapeutic options Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | Inborn errors of metabolism early detection, key symptoms and therapeutic options |
| title_auth | Inborn errors of metabolism early detection, key symptoms and therapeutic options |
| title_exact_search | Inborn errors of metabolism early detection, key symptoms and therapeutic options |
| title_full | Inborn errors of metabolism early detection, key symptoms and therapeutic options [Ertan Mayatepek. In collab. with Birgit Assmann ...] |
| title_fullStr | Inborn errors of metabolism early detection, key symptoms and therapeutic options [Ertan Mayatepek. In collab. with Birgit Assmann ...] |
| title_full_unstemmed | Inborn errors of metabolism early detection, key symptoms and therapeutic options [Ertan Mayatepek. In collab. with Birgit Assmann ...] |
| title_short | Inborn errors of metabolism |
| title_sort | inborn errors of metabolism early detection key symptoms and therapeutic options |
| title_sub | early detection, key symptoms and therapeutic options |
| topic | Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Metabolism, Inborn errors of Angeborene Krankheit Stoffwechselkrankheit |
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