摘要:

Some 50 years ago, MQIter described hypercholesterolemla, xanthomas, and coronary heart disease as symptoms of a genetic disorder. In the 1930s, other important discoveries concerning Inborn errors of metabolism were made in Norway. Felling described phenylketonurla, and Refsum examined his first patients with heredopathla atactica polyneurltlformls (phytanlc acid storage disease). Several other Inborn errors of metabolism have been discovered in Norway: familial lecithincholesterol acyttransferase deficiency, methylmalonlc acldemla, β-methylcrotonylcoenzyme A carboxylase deficiency, pyroglutamlc aclduria, and W-acetyl aspartlc acldurla. Metabolic and biochemical studies in these patients have revealed new and Important metabolic pathways. Studies on patients with Inborn errors not first described in Norway have also given Important Information on key enzymes In metabolic pathways. Thus, studies on patients with cerebrotendinous xanthomatosis and those with Zellweger's syndrome have revealed the normal metabolic route for conversion of cholesterol to bile acids. The discoveries and the clinical and biochemical research In former days were mostly good examples of serendipity combined with excellent clinical alertness. In more recent years, several of the discoveries have resulted from systematic biochemical screening of urine, plasma, or other body fluids from patients with unusual clinical syndromes.

ISSN:0276-5047    

出版商:OVID    

年代:1989

数据来源: OVID