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Rioja, Christine Dyan HUB33

1. Von Gierke's disease is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting, it causes severe hypoglycemia. Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. 2. Pompes disease or acid maltase deficiency is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system. 3. Carbamoyl-phosphate synthase 1 deficiency is a very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated. 4. Fabrys disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid known asglobotriaosylceramide to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of their proper function. 5. Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs. It is caused by a hereditary deficiency of the enzymeglucocerebrosidase. The enzyme acts on a fatty substance glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. 6. Hepatic fructokinase deficiency is a hereditary metabolic disorder caused by a deficiency in hepatic fructokinase, leading to fructose being excreted in the urine. It is essentially a benign condition, as fructose cannot be broken down, so it is simply excreted in the urine. 7. Krabbe's disease is an inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation. 8. LeschNyhan syndrome is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutationsin the HPRT gene located on the X chromosome. The HGPRT deficiency causes a build-up of uric acid in all body fluids. This results in both hyperuricemia and hyperuricosuria, associated with

severe gout and kidney problems. Neurological signs include poor muscle control and moderate mental retardation. 9. Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. It involves sulfatide accumulation. MLD is directly caused by a deficiency of the enzyme arylsulfatase A and is usually characterized by enzyme activity which is less than 10% of human controls. Without this enzyme, sulfatides build up in many tissues of the body, eventually destroying the myelin sheath of the nervous system. 10. Sandhoff disease, also known as Jatzkewitz-Pilz syndrome and Hexosaminidase A and B deficiency, is a rare autosomal recessive, genetic, lipid storage disorder. The disease causes a lysosomal storage disorder where the patient has the inability to create the betahexosaminidase A and beta-hexosaminidase B, which is an enzyme that leads to a build-up of GM2 gangliosides in tissues of the body. This build-up is toxic at high levels, which leads to a progressive destruction of the central nervous system, damages the tissues and eventually leads to death.