Kranial MR bulgusu olan bir hastada klinik bulgu olmasa da ALD suphesini dislamak icin serum VLCFA
The findings of primary adrenocortical failure together with mild spastic paraparesis, ataxia, and an elevated plasma level of VLCFA established the diagnosis of AMN.
Bone marrow transplantation (BMT) causes a substantial reduction of plasma VLCFAs level.
Diet low in VLCFAs and Lorenzo's oil were tried in our patient.
substrates and one of two available methods: either in intact human skin fibroblasts cultured in monolayer (5); or in isolated fibroblasts permeabilized with digitonin (6).
ALD is characterized by abnormal blood levels of complex saturated fatty acids known as VLCFAs
(very-long-chain fatty acids).
Abnormal plasma samples were those leftover from patients with peroxisomal diseases referred to our laboratory and that gave abnormal VLCFA results.
Samples from patients with peroxisomal disease were selected based on previously determined VLCFA values as determined by GC-MS and literature reference intervals (see Table 2) (18,19).
Compared with the previous VLCFA
analysis of serum, our method with dried blood spots on filter paper has some merits.