What is ml2?

What is ml2?

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 does Mucolipidosis mean?

Definition. The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells.

What causes I-cell disease?

I-cell disease is caused by a mutation in the GNPTA gene that leads to a deficiency in the enzyme UDP-N-acetylglucoseamine-1-phosphotransferase. I-cell disease is inherited as an autosomal recessive genetic trait.

What is Mucolipidosis Type IV?

Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.

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 is Alpha Mannosidosis?

Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities.

Is cell disease curable?

There is no current cure for I Cell Disease. Treatment is supportive. Bone marrow transplantation may be used to delay or correct neurological deterioration.

What is Hurler’s syndrome?

Hurler syndrome is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.

Is Mucolipidosis recessive or dominant?

How are the mucolipidoses inherited? The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent.

What is Galactosialidosis?

Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.

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.