Vademecum Metabolicum: Manual of Metabolic PaediatricsSchattauer Verlag, 2004 - 164 páginas Inborn errors of metabolism represent a special challenge in general and paediatric practice. The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic disorders in various biochemical pathways makes it difficult to be familiar with diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum aims to provide practical guidance to the clinician. The second edition has been extensively updated and expanded. The first section summarises the differential diagnosis and management strategies for a large number of clinical situations, and describes indications and requirements for all relevant metabolic investigations. The second section explains the metabolic pathways in detail. Clinical characteristics, diagnostic approaches and the basis of therapy are discussed for more than 300 individual disorders. Foreword by James V. Leonard, London |
Índice
Main problem See page | 3 |
Allopurinol test | 36 |
Forearm ischaemia test | 52 |
Principles of treatment | 58 |
Classical organic acidurias | 64 |
Disorders of the metabolism of branchedchain amino acids | 70 |
Disorders of cobalamin metabolism | 77 |
Disorders of the gammaglutamyl cycle | 83 |
Carbohydrate metabolism | 100 |
Disorders of glycerol metabolism | 106 |
Sphingolipidoses | 118 |
Protein glycosylation | 131 |
Neurotransmission | 144 |
Appendix | 157 |
| 162 | |
Disorders of fatty acid oxidation and ketogenesis | 94 |
Términos y frases comunes
AA plasma abnormalities acid oxidation disorders acidosis acute acylcarnitines amino acids ammonia anaemia asymptomatic ataxia Autosomal recessive bile acids Bioch Biogenic amines biopsy biosynthesis cardiomyopathy carnitine cholesterol clinical features cofactor cytosolic defects deficiency Clinical dehydrogenase Diagn diagnosis diet doses dried blood spots dysfunction dysmorphy elevated enzyme enzyme studies leukocytes epilepsy erythrocytes failure to thrive fatty acid oxidation fibroblasts fructose GABA gene Genetics glucose glycine glycogen storage disease hepatic hepatomegaly hepatosplenomegaly hyperammonaemia hypoglycaemia hypotonia investigations jaundice laboratory lactate lipid liver long-chain lysosomal Manif mental retardation metabolic disorders metabolites mg/day mg/dl mg/kg mg/kg/day mitochondrial disorders mmol/l muscle mutation analysis neonatal neurological normal OA urine onset organic acids organic acidurias orotic acid patients peroxisomal porphyria progressive protein psychomotor retardation pyruvate renal sample seizures serum skeletal spasticity Sphingolipidoses Sterols symptoms syndrome synthase synthesis Therapy transport treatment triglycerides Tyrosinaemia urea cycle uric acid urine vitamin X-linked
Referencias a este libro
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke Vista previa restringida - 2005 |