O’Brien has described the progress made in identifying lipid storage diseases as “enzymes to prevention.” (O’Brien, 1973). The lipid-storage diseases, called “lipidoses,” have been known since 1881 when Warren Tay, a British opthalmologist, together with Bernard Sachs, described a disease associated with the decline and finally arrest of cerebral development. Later on, this disease was named after the discoverers, Tay-Sachs disease. In later years, many diseases were reported in which there was an involvement of the CNS and also an abnormal accumulation of lipids. One exception to the above was found in Fabr’s disease, where there was no involvement of the CNS, instead, the peripheral nervous system was affected. The accumulation of lipid may not always be in the brain; for example, in Gaucher’s disease, the lipid accumulates both in the liver and the spleen. The nature of the biochemical lesion in diseases collectively called sphingolipidoses was traced to an accumulation of a complex lipid. The genesis and structure of these lipids is given below.
KeywordsInborn Error Disease Maple Syrup Urine Maple Syrup Urine Disease Metachromatic Leukodystrophy Phenyl Pyruvate
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