Diseases Associated with Single Enzyme Deficiencies

This group comprises the X-linked recessive adrenoleu-kodystrophies (X-ALDs) and the recessively inherited adult Refsum's disease (ARD). The X-linked leukodys-trophies, the most common peroxisomal diseases, include childhood, juvenile, and adult adrenoleukodys-trophies and adult adrenomyeloneuropathy (AMN). X-ALDs are caused by mutations in the gene ABCD1, which codes for a peroxisomal membrane protein (ALDP) located on chromosome Xg28. Due to defective oxidation, VLCFAs accumulate in the cerebral and spinal cord white matter and adrenocortical cells, and variably in other tissues. High levels of VLCFA in plasma and skin fibroblasts confirm the diagnosis. MRI T2-weighted images demonstrate hyperintense lesions in parieto-occipital white matter and magnetic resonance spectroscopy (MRS) shows increased levels of choline.

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