What is Alpha-Mannosidosis?
Alpha-mannosidosis is a rare genetic condition characterized by an inability to properly break down certain groups of complex sugars in the body’s cells. The accumulation of sugars affects many of the body’s organs and systems, including the central nervous system. The effects of the disease can vary significantly.
What causes alpha-Mannosidosis?
Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait. Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders.
How is alpha-mannosidosis inherited?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What is beta Mannosidosis?
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence.
Is Alpha-Mannosidosis autoimmune?
Definition and diagnosis criteria Alpha-mannosidosis is a genetic disorder of metabolism characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder is caused by lysosomal α-mannosidase deficiency and is inherited in an autosomal recessive fashion.
What causes Sialidosis?
Sialidosis is caused by mutations of the NEU1 gene. This gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
What is multiple sulfatase deficiency?
Multiple sulfatase deficiency is an autosomal recessive disorder caused by a change (mutation) in the SUMF1 gene. This gene allows cells to make an enzyme called FGE (formylglycine-generating enzyme) that activates all sulfatases within the cell. Without activation, sulfatases are not able to do their jobs in the cell.
What causes beta Mannosidosis?
What causes beta-mannosidosis in children? Beta-mannosidosis is caused by mutations in a gene known as MANBA, which provides instructions for the production of an enzyme called beta-mannosidase.
Is lupus recessive or dominant?
Not all people with SLE have a gene variation that increases the risk, and not all people with such a gene variation will develop the disorder. A rare, inherited form of SLE follows an autosomal recessive inheritance pattern , which means both copies of the gene in each cell have disease-causing variants.
Is lupus hereditary or genetic?
It’s likely that lupus results from a combination of your genetics and your environment. It appears that people with an inherited predisposition for lupus may develop the disease when they come into contact with something in the environment that can trigger lupus. The cause of lupus in most cases, however, is unknown.
How is Sialidosis diagnosed?
A diagnosis of sialidosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. An examination of urine may reveal increased levels of oligosaccharides.
What is ml2 diagnosis?
Mucolipidosis II (ML II) is a rare, inherited disorder that is progressive in nature and affects many of the body’s systems. Mucolipidosis II is also known as I-cell disease. The condition is classified as a lysosomal storage disorder (LSD).
What is Austin disease?
Austin disease is one of the many forms of lysosomal storage disease caused by a defective gene involved in the production of sulfatase enzymes. In humans, the SUMF1 gene codes for the formylglycine generating enzyme (FGE). A pathologic mutation in SUMF1 gene results in the deficiency of the FGE.
What Is Sjögren Larsson syndrome?
Summary. Sjögren-Larsson syndrome (SLS) is an inherited disorder characterized by scaling skin (ichthyosis), intellectual disability, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth.
How common is Pompe disease?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
What is the incidence of Hurler syndrome?
The incidence of Hurler syndrome is approximately 1 in 100,000 births. [1] Male and female children are equally affected. All races and ethnicities are at risk of inheriting the disease.