Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare inherited metabolic disorder characterized by the body’s inability to break down certain complex sugar molecules called glycosaminoglycans (GAGs). This leads to their accumulation in various tissues, causing…
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is caused by genetic mutations that lead to a deficiency in specific enzymes responsible for breaking down complex sugar molecules called glycosaminoglycans (GAGs), particularly heparan sulfate. These enzymes normally work…
Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that affects many parts of the body and causes a wide range of symptoms. These symptoms usually appear in early childhood and progressively worsen over…
Hurler syndrome is caused by a genetic mutation that affects the body’s ability to produce a specific enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex sugar molecules known as glycosaminoglycans (GAGs), which are long chains of…
Mucopolysaccharidosis (MPS) is a group of rare inherited metabolic disorders caused by the body’s inability to break down certain complex sugar molecules called glycosaminoglycans (GAGs). These molecules accumulate in cells, tissues, and organs, leading to a wide range of symptoms…
Pompe disease is caused by a genetic problem that leads to a deficiency or absence of an important enzyme called acid alpha-glucosidase (GAA). This enzyme’s normal job is to break down glycogen, a stored form of sugar, inside the lysosomes…
Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A. This enzyme deficiency leads to the buildup of a fatty substance called globotriaosylceramide (Gb3 or GL-3) in various cells throughout the body. Over time,…
Niemann-Pick disease is a rare inherited disorder caused by genetic mutations that disrupt the normal processing and transport of lipids, particularly cholesterol, within cells. These mutations lead to the accumulation of harmful amounts of lipids inside various organs, especially the…
Gaucher disease is a rare genetic disorder caused by a deficiency of an enzyme called glucocerebrosidase. This enzyme deficiency leads to the buildup of fatty substances, mainly glucocerebroside, inside certain cells, especially in organs like the spleen, liver, and bone…
Tay-Sachs disease is caused by a genetic mutation that leads to a deficiency of a critical enzyme called beta-hexosaminidase A. This enzyme is responsible for breaking down a fatty substance known as GM2 ganglioside in the brain and spinal cord.…