Hyperbilirubinemia, familial

Rh-negative mothers with prior exposure to Rh-positive infants Hemolysis Infection Dehydration Breast-feeding Hypothryoidism Maternal drug use Drugs given to infants Familial nonhemolytic hyperbilirubinemia... 

Dehydrogenase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy. Catabolism of essential amino acid skeletons is discussed in the chapters Phenylketonuria and HMG-CoA Lyase Deficiency. The chapters Inborn Errors of Urea Synthesis and Neonatal Hyperbilirubinemia discuss the detoxification and excretion of amino acid nitrogen and of heme. The chapter Gaucher Disease provides an illustration of the range of catabolic problems that result in lysosomal storage diseases. Several additional chapters deal with key aspects of intracellular transport of enzymes and metabolic intermediates the targeting of enzymes to lysosomes (I-Cell Disease), receptor-mediated endocytosis (Low-Density Lipoprotein Receptors and Familial Hypercholesterolemia) and the role of ABC transporters in export of cholesterol from the cell (Tangier disease). 

Lucey-Driscoll syndrome is a familial form of unconjugated hyperbilirubmemia caused by a circulating inhibitor of bilirubin conjugation. The hyperbilirubinemia is mild and lasts for the first 2 to 3 weeks of life. 

Patients are occasionally seen with isolated elevations in bilirubin concentration. In most cases, this is due to inherited disorders of bilirubm metabolism, famihal hyperbilirubinemia, or hemolysis. It is not difficult to distinguish hemolysis severe enough to cause hyperbilirubinemia, because the patient with hemolysis wiU have many other disease manifestations. An algorithm for differentiating the familial causes of hyperbihrubinemia is presented in Figure 47-19. 

Bilirubin oxidase, purified and characterized from the fungus Myrothecium verrucaria, has a strong amino acid sequence homology with the other blue copper oxidases and point mutations studies on the supposed copper binding residues have confirmed its identity as a member of the enzymatic family.In vitro, BO couples 02-reduction to the oxidation of bilirubin to biliverdin. This catalytic activity has found clinical application in the diagnosis and treatment of jaundice and hyperbilirubinemia. 

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