Pompe
Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder caused by a deficiency of the enzyme alpha-glucosidase, responsible for breaking down glycogen into glucose. This results in the accumulation of glycogen in cells, particularly in muscle cells, leading to progressive muscle weakness and damage. Pompe disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease. Major symptoms of the disease include difficulty breathing, feeding, and moving in infants with the most severe form of the disease. Later-onset forms of the disease can cause muscle weakness, respiratory problems, and cardiomyopathy. Early diagnosis and enzyme replacement therapy can improve quality of life and outcomes for people with Pompe disease.
Fabry disease is a rare genetic disorder that affects the metabolism of the globotriaosylceramide (Gb3 or GL-3). The disease is caused by a deficiency of the enzyme alpha-galactosidase A, which is responsible for breaking down Gb3. As a result, Gb3 accumulates in cells throughout the body, leading to progressive organ damage and dysfunction. Fabry disease is inherited in an X-linked recessive pattern, meaning that the mutated gene is located on the X chromosome and mainly affects males. Major symptoms of the disease include chronic pain, skin rashes, gastrointestinal problems, kidney disease, and heart disease. Early diagnosis and treatment can improve quality of life and outcomes for people with Fabry disease. Treatment typically involves enzyme replacement therapy (ERT) and other supportive measures to manage specific symptoms and complications.
Fabry
Gaucher
Gaucher disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, which is responsible for breaking down glucocerebroside. As a result, molecules of glucocerebroside accumulates in the macrophages-monocytes throughout the body, particularly in the spleen, liver, brain, and bone marrow. Gaucher disease is inherited in an autosomal recessive pattern and is the most common lysosomal lipid storage disease. Major symptoms of the disease include hepatosplenomegaly, anemia, thrombocytopenia, and bone pain and fractures. There are three main types of Gaucher disease, with varying degrees of severity and onset. Treatment typically involves enzyme replacement therapy (ERT), which can help reduce symptoms and prevent complications. Bone marrow transplantation may also be considered in certain cases.
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). As a result, GAGs like heparan and dermatan sulfate accumulate in cells throughout the body, leading to progressive organ damage and dysfunction. MPS I is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease. Major symptoms of the disease include developmental delay, skeletal abnormalities, hepatosplenomegaly, corneal clouding, and lung and cardiac diseases. There are three main forms of MPS I, with varying degrees of severity and onset. Treatment typically involves enzyme replacement therapy (ERT), which can help improve symptoms and quality of life. Other supportive measures may be necessary to manage specific symptoms and complications.
MPS I
ASMD
Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type A and type B, is a rare genetic disorder caused by a deficiency of the enzyme acid sphingomyelinase (ASM). This enzyme is responsible for breaking down sphingomyelin. As a result, sphingomyelin accumulates in cells throughout the body, leading to progressive organ damage and dysfunction. ASMD is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease. Major symptoms of the disease include hepatosplenomegaly, lung problems, and neurological symptoms such as developmental delay, seizures, and cognitive impairment. There are two main forms of ASMD: type A, which is the more severe form and typically presents in infancy, and type B, which is the milder form and usually presents in childhood or adulthood. Treatment typically involves enzyme replacement therapy (ERT), which can help reduce symptoms and prevent complications. Other supportive measures may be necessary to manage specific symptoms and complications.