Bernheimer H, Molzer B
Klin Padiatr. 1986 Mar-Apr;198(2):84-8. doi: 10.1055/s-2008-1026859.
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.
脂代谢障碍是由于脂质酶促分解代谢中特定疾病缺陷导致的遗传性疾病，相应的脂质底物在神经系统和/或外周组织中蓄积。脂代谢障碍的临床化学诊断可分别通过在体液（尿液、血清）、白细胞、培养的成纤维细胞、羊水细胞或羊水中证实酶缺陷和/或底物蓄积来完成。这些检测在以下方面很重要：1. 特异性检测或排除临床表现难以诊断的疾病；2. 产前诊断；3. 检测（临床上不明显的）杂合子（这对个体遗传咨询至关重要）；4. 对Refsum病饮食治疗进行生化监测。
