Lysosomal storage diseases (LSDs) are a group of hereditary disorders that disrupt lysosomal function, specifically, enzymes involved in cell metabolism, signaling, substrate processing, innate immunity, apoptosis, and other complex cell recycling processes. This process is extremely complex. The accumulation of undigested or partially processed molecules become toxic for the host cell. The onset tends to predominate in early infancy or childhood, with some disease onset in adulthood. LSDs tend to have a progressive neurodegenerative course and can cause multi-organ failure and, ultimately, death.
Leukodystrophies are inherited disorders that predominantly affect the central nervous system (CNS) white matter tracts, and it’s cellular components. These may include glial cells, myelin sheath, and axons. Genetic leukodystrophies tend to combine features of leukodystrophies with development issues caused by inborn errors of metabolism, disorders of DNA transcription, translation, production of critical CNS proteins including myelin, and neuronal cytoskeletal dysfunction.
Metachromatic leukodystrophy is a demyelinating, autosomal recessive genetic leukodystrophy and LSD, caused by an inborn error of metabolism in the arylsulfatase A lysosomal enzyme. This leads to the accumulation of sulfatides, which result in the dysfunction and destruction of the CNS/PNS myelin sheaths. It also accumulates in other organs, including the kidneys, testes, and gallbladder. It can be classified based on the age of onset and clinical features of the disease. All forms of the disease involve a progressive deterioration of neurodevelopment and neurocognitive function.
Metachromatic leukodystrophy is caused by deficient activity of arylsulfatase A. In almost all cases, mutations are in the arylsulfatase A gene (ARSA gene), on chromosome 22q13.3-qter. Two alleles, A and I have contributed to approximately 50 percent of cases and are responsible for different clinical expression of the disease. In some cases, it is due to the deficiency of sphingolipid activator protein SAP-B (saposin B), which is responsible for the degradation of sulfatides by ARSA. This form is caused by mutations in the prosaposin gene (PSAP gene)
https://www.ncbi.nlm.nih.gov/books/NBK560744/
Treatment of metachromatic leukodystrophy is with sulphatidin. It may dissolve granules of sulphatides. Sulphatidin metabolize fats and carbohydrates therefore may treat hyperglycemia and many types of fat metabolic disorders including adrenoleukodystrophy and hypercholesterolemia. Because it may lower blood sugar, cholesterol and calcium, therefore also useful in diabetes and atherosclerosis. As atherosclerosis is main reason of heart attack and CVA so, Sulphatidin is good drug for prevention and treatment of heart attack and CVA.
Precautions: Sulphatidin should use with precaution in hypoglycemia, hypotension, hypoxia and hypocalcemia.
Sulphatidin is also blood thinner so use with precaution with anti cogulants and blood thinners.sulphatidin has also antioxidant properties so helpful in fits and Neuro degenerative diseases due to oxidative stress. Get precautions in the use in hypoxic patients. It is also chelating agent so helpful in Wilson disease or other diseases caused by heavy metals.
