What causes alpha mannosidosis?

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.

What type of disease is Mannosidosis?

Alpha mannosidosis is a lysosomal storage disorder, a form of inborn metabolic disease. It is characterized by intellectual disability , hearing loss , ataxia , skeletal abnormalities, and coarse facial features.

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.

What causes Aspartylglucosaminuria?

Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes , which are structures inside cells that act as recycling centers.

How common is alpha Mannosidosis?

Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.

How is Niemann Pick disease inherited?

The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected. Niemann-Pick is a progressive disease, and there is no cure.

What is Fucosidosis?

Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life.

What type of mutation is Aspartylglucosaminuria?

Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGUFin, enriched in Finland; all the other known AGU mutations are family-specific.

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.

How does Niemann-Pick affect the brain?

Types of Niemann-Pick This affects the body’s ability to metabolize fat (cholesterol and lipids), resulting in a buildup of fat in cells. This causes cell dysfunction and, over time, cell death. Type A occurs mainly in infants, who show severe, progressive brain disease.

What is Globoid cell leukodystrophy?

Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system.

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