[Lipid storage diseases (lipidoses): genetic, biochemical and clinico-chemical aspects].
Lipidoses are genetic diseases due to disease-specific defects in the enzymatic catabolism of lipids, with accumulation of the respective lipid substrate in the nervous system and/or peripheral tissues. The clinical chemical diagnosis of lipidoses can be accomplished by demonstration of the enzyme defect and/or substrate accumulation in body fluids (urine, blood serum), leukocytes, cultured fibroblasts, amniotic fluid cells, or amniotic fluid, respectively. These assays are important with regard to: 1. the specific detection or exclusion of diseases, which are difficult to diagnose by their clinical presentation, 2. prenatal diagnoses, 3. detection of (clinically inconspicuous) heterozygotes (essential for individual genetic counselling), and 4. the biochemical control of dietary treatment in Refsum's disease.
Bernheimer
H
H
Molzer
B
B
D001928:Brain Diseases, Metabolic / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D004798:Enzymes / Q000172:deficiency; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004798:Enzymes
Lipidspeicherkrankheiten (Lipidosen): Genetische, biochemische und klinisch-chemische Aspekte.