Sphingolipidoses
Encyclopedia
Accumulated products
- Gangliosides: GangliosidosisGangliosidosisGangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally.-See also:...
- GM1 gangliosidosesGM1 gangliosidosesThe GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells.-Early infantile GM1:...
- GM2 gangliosidosesGM2 gangliosidosesThe GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names.Beta-hexosaminidase is a...
- Tay-Sachs diseaseTay-Sachs diseaseTay–Sachs disease is an autosomal recessive genetic disorder...
- Sandhoff diseaseSandhoff diseaseSandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
- Tay-Sachs disease
- GM1 gangliosidoses
- GlycolipidGlycolipidGlycolipids are lipids with a carbohydrate attached. Their role is to provide energy and also serve as markers for cellular recognition.-Metabolism:...
s- Fabry's diseaseFabry's diseaseFabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms...
- Krabbe diseaseKrabbe diseaseKrabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
- Metachromatic leukodystrophyMetachromatic leukodystrophyMetachromatic 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...
- Fabry's disease
- GlucocerebrosideGlucocerebrosideGlucocerebroside is any of the cerebrosides in which the monosaccharide head group is glucose.-Clinical significance:...
s- Gaucher's diseaseGaucher's diseaseGaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid...
- Gaucher's disease
Overview
| Disease | Deficient enzyme | Accumulated products | Symptoms | Inheritance |
|---|---|---|---|---|
| Niemann-Pick disease Niemann-Pick disease Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate... |
Sphingomyelinase | Sphingomyelin Sphingomyelin Sphingomyelin is a type of sphingolipid found in animal cell membranes, especially in the membranous myelin sheath that surrounds some nerve cell axons. It usually consists of phosphorylcholine and ceramide... in brain and RBC Red blood cell Red blood cells are the most common type of blood cell and the vertebrate organism's principal means of delivering oxygen to the body tissues via the blood flow through the circulatory system... s |
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Autosomal recessive |
| Fabry disease | α-galactosidase A | Glycolipid Glycolipid Glycolipids are lipids with a carbohydrate attached. Their role is to provide energy and also serve as markers for cellular recognition.-Metabolism:... s in brain, heart, kidney |
Angiokeratoma Angiokeratoma a is benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis.... s |
X-linked |
| Krabbe disease Krabbe disease Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern... |
Galactocerebrosidase | Glycolipids in oligodendrocytes |
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Autosomal recessive |
| Gaucher disease | Glucocerebrosidase Glucocerebrosidase β-Glucocerebrosidase is an enzyme with glucosylceramidase activity that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism... |
Glucocerebroside Glucocerebroside Glucocerebroside is any of the cerebrosides in which the monosaccharide head group is glucose.-Clinical significance:... s in RBCs, liver and spleen |
Hepatosplenomegaly Hepatosplenomegaly is the simultaneous enlargement of both the liver and the spleen . Hepatosplenomegaly can occur as the result of acute viral hepatitis or infectious mononucleosis, or it can be the sign of a serious and life threatening lysosomal storage disease... Bone pain Bone pain is a debilitating form of pain emanating from the bone tissue. It occurs as a result of a wide range of diseases and/or physical conditions and may severely impair the quality of life for patients who suffer from it... |
Autosomal recessive, prevalent in Ashkenazi Jews |
| Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder... |
Hexosaminidase A | GM2 gangliosides in neurons |
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Autosomal recessive, prevalent in Ashkenazi Jews |
| Metachromatic leukodystrophy Metachromatic leukodystrophy 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... |
Arylsulfatase A Arylsulfatase A Arylsulfatase A is an enzyme that breaks down cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.-External links:* *... or prosaposin Prosaposin Prosaposin also known as PSAP is a protein which in humans is encoded by the PSAP gene.This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Saposin is an acronym for Sphingolipid Activator PrO[S]teINs... |
Sulfatide Sulfatide Sulfatides are a class of sulfated galactosylceramides synthesized primarily in the oligodendrocytes in the central nervous system. Sulfatides are a type of sulfolipid.-Clinical significance:... compounds in neural tissue |
Demyelinisation in CNS Central nervous system The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish... and PNS Peripheral nervous system The peripheral nervous system consists of the nerves and ganglia outside of the brain and spinal cord. The main function of the PNS is to connect the central nervous system to the limbs and organs. Unlike the CNS, the PNS is not protected by the bone of spine and skull, or by the blood–brain... : |
Autosomal recessive |
