Familial diseases

Abetalipoproteinemia or Bassen-Kornzweig syndrome, a potentially disabling, familial disease characterized by lack of plasma TGs, malabsorption of fat-soluble vitamins, liver steatosis, steatorrhea, and other symptoms, is linked to mutations in the MTP functional subunit [52,53],... 

Enzymes involved in TG synthesis continue to represent challenging and intriguing targets for small-molecule intervention against the worldwide epidemic of obesity, metabolic syndrome, and type 2 diabetes, as well as smaller market indications from rare familial diseases to veterinary use. There is also intriguing evidence that inhibition of these enzymes may be beneficial for diseases unrelated to the area of metabolic disorders, such... 

The personal consequences of alcoholism reach far beyond the alcoholic. An alcoholic s drinking affects many people, especially the members of his or her family. Alcoholism is a family disease, and the members of an alcoholic family system develop roles that are unconsciously played out to draw attention away from the alcoholic. The spouse or partner of the alcoholic is called the enabler. The enabler s role is to protect the alcoholic from the negative consequences of drinking. The enabler works hard to control life in an alcoholic family. 

Salen, G., Shefer, S., and Berginer, V. M., Familial diseases with storage of sterols other than with cholesterol Cerebrotendinous xanthomatosis and sitosterolemia with xanthomatosis. In The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds.), 5th Ed., pp. 713-730. McGraw-Hill, New York, 1983. 

The VHP agents are divided into four major viral families filoviruses, arenaviruses, bunyaviruses, and fla-viviruses. Table 21.2 categorizes these RNA viruses by viral family, disease, natural distribution, vector and incubation period. 

VIRUS FAMILY DISEASE (VIRUS) NATURAL DISTRIBUTION USUAL SOURCE OF HUMAN INFECTION INCUBATION (DAYS)... 

Familial diseases include Dubin-Johnson syndrome, Rotor s syndrome, and benign familial recurrent cholestasis. Serum bilirubin values in Dubin-Johnson syndrome are the same as those found in Rotor s syndrome (Table 29-2). Very little is known about benign familial recurrent cholestasis. All three disorders are uncommon or rare, and all are benign. The liver in Dubin-Johnson... 

Fig. 4.8 Protein family/disease ortholog view of the Drosophila protein-interaction map. Proteins are color-coded according to protein family as annotated by the Gene Ontology hierarchy. Proteins orthologous to human disease proteins have a jagged, starry border. Interactions were sorted ac-...

In suspected phaeochromocytoma, urinary catecholamines or their metabolites should be measured. If the patient does not experience symptoms during the period of collection these tests may be normal. Hyperglycaemia and hypercalcaemia are other recognized consequences of excessive catecholamine secretion in patients with phaeochromocytomas. If a phaeochromocytoma is diagnosed then the possibility of familial disease should be considered and family members screened. 

Regulation of plasma lipoprotein levels involves a balance between dietary fat intake, hepatic processing, and utilization in peripheral tissues. Primary disturbances in regulation oceur in various familial diseases. Secondary disturbances are associated with many endocrine conditions and diseases of the liver or kidneys. 

Hyperparathyroidism is an endocrine syndrome. It is sometimes suggested that hyperparathyroidism is a familial disease, and it has been proposed that chief cell hyperplasia is transmitted as an autosomal dominant trait. Hyperparathyroidism results from hypersecretion of parathormone, but increased levels of parathormones in the blood have never been demonstrated. 

The Laurence-Moon-Biedl syndrome is a familial disease characterized by adiposogenital dystrophy, mental deficiency, and numerous other congenital malformations, including skull deformities, atresia of the anus, polydactyly, and retinitis pigmentosa. 

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