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
Table of contents | 1 |
Main problem See page | 3 |
Psychomotor retardation | 14 |
Unusual clinical observations | 27 |
Molecular genetic investigations | 40 |
Allopurinol test | 51 |
Classical organic acidurias | 65 |
Disorders of serine and glycine metabolism | 79 |
Disorders of fatty acid oxidation and ketogenesis | 94 |
Disorders of pentose metabolism | 107 |
Sphingolipidoses | 118 |
Protein glycosylation | 131 |
Neurotransmission | 144 |
Appendix | 157 |
Términos y frases comunes
AA plasma abnormalities acid oxidation disorders acidosis acute acyl-CoA acylcarnitines amino acids ammonia asymptomatic ataxia bile acids Bioch biopsy biosynthesis cardiomyopathy carnitine cause cholesterol Clinical features cofactor creatine cytosolic deficiency Clinical dehydrogenase Diagn diet doses dried blood spots dysfunction dysmorphic elevated enzyme enzyme studies leukocytes epilepsy erythrocytes failure to thrive fasting fatty acid oxidation fibroblasts galactosaemia Galactose gene Genetics glucose glycine glycogen storage disease hepatic hepatomegaly hepatosplenomegaly hyperammonaemia hypoglycaemia hypotonia indicated intake investigations ketones laboratory lactate lipid liver long-chain lysosomal Manif mental retardation metabolic disorders metabolites mg/day mg/dl mg/kg mg/kg/day mitochondrial disorders muscle mutation analysis neonatal screening neurological normal OA urine organic acids organic acidurias orotic acid patients peroxisomal progressive protein psychomotor retardation pyruvate renal respiratory chain samples seizures serum storage disease type storage disorders symptoms syndrome synthase synthesis Therapy transport treatment triglycerides Tyrosinaemia Tyrosinaemia type urea cycle uric acid urine vitamin µmol/l
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 |