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.…
Galactosemia is a rare inherited metabolic disorder that affects the body’s ability to process galactose, a sugar found primarily in milk and dairy products. The signs of galactosemia usually appear shortly after birth, especially when an infant begins to consume…
Homocystinuria is caused primarily by genetic mutations that disrupt the normal metabolism of the amino acid methionine, leading to an accumulation of homocysteine and related compounds in the body. The most common cause is a mutation in the gene that…
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by the body’s inability to break down certain amino acids—specifically leucine, isoleucine, and valine. This leads to their accumulation in the blood and urine, causing a distinctive sweet…
Phenylketonuria, commonly known as PKU, is a genetic disorder caused by a problem in the body’s ability to process an amino acid called phenylalanine. Phenylalanine is a building block of proteins found in many foods, including meat, dairy, eggs, and…