Metabolic Disease: A Guide to Early Recognition |
Contents
CATASTROPHIC METABOLIC DISEASES PRESENTING IN THE NEWBORN PERIOD | 3 |
BIOCHEMISTRY IN METABOLISM AND MEDICINE | 7 |
PATHOPHYSIOLOGY AND DIFFERENTIAL DIAGNOSIS OF CLINICAL DERANGEMENTS | 43 |
Copyright | |
41 other sections not shown
Common terms and phrases
abnormalities accumulation acidosis activity addition amino acids amounts appears associated bilirubin binding biochemical blood body bone brain calcium cause cell cent changes Chapter clinical common complex compounds concentration consequence cycle decreased defect deficiency depends diabetic ketoacidosis diagnosis discussed disease disorders effect elevated energy enzyme excretion factors failure fatty acids Figure findings fluid follows formation function further glucose glycogen growth hepatic hormone important increased individuals infant inherited interactions intestinal intracellular involved kidney Laboratory leads levels lipid liver loss major manifestations mechanism membrane metabolism molecule muscle neonatal normal occurs organic oxidation pathway patients phosphate plasma possible present production protein proximal reaction renal requires response result rickets role secretion serum serve severe sodium specific storage structure studies substrate symptoms syndrome synthesis Table therapy tissue transport tubule urea urinary urine usually vitamin