A Clinical Guide to Inherited Metabolic Diseases
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
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abnormalities accumulation acid metabolism acid oxidation defects acidemia acidopathies aciduria acute encephalopathy acyl-CoA dehydrogenase acylcarnitines affected amino acid ammonium associated ataxia autosomal biochemical biosynthesis blood carboxylase cardiomyopathy carnitine caused cells Chapter characteristic chronic clinical congenital deficiency diagnosis dietary disease MPS enzyme enzyme defects errors of metabolism facial dysmorphism failure to thrive fatty acid oxidation fibroblasts galactosemia Gaucher disease gene genetic glucose hepatocellular dysfunction hepatorenal tyrosinemia hyperammonemia hypoglycemia hypotonia inborn errors increased infants inherited metabolic diseases investigation involvement laboratory lactate lactic acidosis leukocytes levels liver long-chain lysosomal storage medium-chain metabolic acidosis metabolic diseases metabolites methylmalonic mitochondrial MSUD mtDNA muscle mutations myopathy neonatal neurologic newborn period normal onset organic acid organic acid analysis ornithine patients peroxisomal phenotype phenylalanine plasma porphyria present prominent protein psychomotor retardation pyruvate result seizures severe shows specific substrate syndrome Table tandem MSMS tissue treatment typical urinary organic acid urine variants vitamin