The more than forty known Sphingolipid disorders can have many adverse effects on maintaining good health
Sphingolipids, derived from the aliphatic amino acid sphingosene, have important cell recognition roles that significantly impact neutral tissues, the main component part of the nervous system that includes the spinal cord, the brain, and the nerves. Sphingolipids can affect sensory input, muscle control, mental activities, and homeostasis that regulate the body's internal environment and keep it in a stable, constant condition. The liver, brain, kidneys, autonomic nervous system, and endocrine system help maintain these homeostatic processes. Heart failure, dehydration, hyperglycoma, gout, and hypoglycoma, along with many other diseases caused by toxins in the bloodstream, can result from homeostatic imbalances.
Sphingolipids protect cell surfaces against harm by creating mechanically stable chemical resistant outer leaflets of the plasma membrane lipid bylayer, and are major component parts of the eukaryotic plasma membrane that encloses all living cells with a double layer of lipids. The many adverse effects of Sphingolipids on maintaining good health may include hypertonicity, loss of vision, macular degeneration, optic atrophy, blindness, mental retardation, progressive spastic paralysis, convulsions, and death.
There are approximately forty known diseases of sphingolipid metabolism that abnormally store excess amounts of sphingolipids, including the genetic Gauchers Disease, in which fatty lipids accumulate in cells and organs such as the spleen, liver, lungs, brain, and bone marrow. Another common Sphingolipid disease is the lysosomal storage metabolic Fabry's Disease, a rare X-linked recessive buildup of glycosphingolipids that develop chronic renal conditions,
Tay-Sachs Disease, an autosomal recessive genetic Sphingolipid disorder with relentless mental and physical deteriorations, can begin in infants as young as 6-months old, and usually results in death by the time they are 5 years old. Tay-Sachs Disease is caused by harmful quantities of gangolipids that are highly important in immunology, accumulating in nerve cells of the brain.
Late Infantile Bielschowsky's Disease is often characterized by temporary losses of vertical comitancy of the eyes, as the centers of the eyes cannot work harmoniously together.
Batten-Mayou Disease, a rare, fatal, autosomal recessive neurodegenerative childhood disorder, typically appearing in children between the ages of 4 and 10 years old, can manifest with gradual vision losses, seizure disorders, learning regressions, repetitive speech problems, poor circulation in the lower extremities, decreased body fat, spine curvatures, and hyperventilation.
Kufs Disease, typically beginning between the ages of 21 and 26 years old, can be an autosomal recessive or autosomal dominant disorder, with progressive mental retardation, apathy, muscular rigidity, posture deteriorations, tremors, and seizures.