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 acid 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. In infantile-onset patients, major symptoms/signs include difficulty breathing, feeding, as well as severe muscular hypotonia and hypertrophic cardiomyopathy, which is fatal in the first year of life if untreated. Later-onset forms of the disease can cause muscle weakness, that might lead to the use of a wheelchair or other walking aids, as well as respiratory problems that frequently lead to respiratory failure. Early diagnosis and enzyme replacement therapy (ERT) 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 pattern, meaning that the mutated gene is located on the X chromosome and affects both males and females. 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. Specific therapy includes enzyme replacement therapy (ERT) and chaperone treatment (for patients with amenable mutations) , in addition to other supportive measures to manage symptoms and complications.
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 accumulate 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 storage disease. Major symptoms of the disease include hepatosplenomegaly, anemia, thrombocytopenia, 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) or substrate reduction therapy (SRT), 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. Major symptoms of the disease include developmental delay, skeletal abnormalities, hepatosplenomegaly, corneal clouding, and lung and cardiac diseases. Currently, two clinical forms of MPS I are recognized, a severe form (formerly Hurler) and an attenuated form (encompassing former Hurler-Scheie and Scheie forms), with variable degree of severity and age of 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.
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease types A, A/B and 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. Major symptoms of the disease include hepatosplenomegaly, lung problems, and neurological symptoms such as developmental delay, seizures, and cognitive impairment. There are three main forms of ASMD: type A, wich is the more severe form with neurological manifestations and rapid progression, and typically presents in infancy, type B, usually presents in childhood or adulthood, with no neurological manifestations, and type A/B, which is an intermediate form between type A and type B, with varying degrees of severity and age of onset. 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.