Mucolipidosis ii alpha/beta


What is mucolipidosis II alpha/beta?

Mucolipidosis II alpha/beta is a rare disorder. It is also called I-cell disease. It is a genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in a specific gene, people with mucolipidosis II lack an enzyme. This enzyme is a transport enzyme and it is needed to help other enzymes reach lysosomes. Lysosomes are found in almost every type of cell in the body and are the primary digestive unit of a cell. They break down different substances within the cell and recycle them. These other enzymes are digestive enzymes. Since they cannot reach lysosomes, they cannot break down (metabolize) certain complex substances in the body. These substances build up in the tissues, bones and major organs of the body. Eventually, this damages the affected areas and organs of the body. People with mucolipidosis II have problems with the skeleton, skin, heart, joints, and brain. They can have problems breathing properly as well. Some children have problems with their heart or cardiovascular system. Mucolipidosis II is caused by changes in a gene called GNPTAB. The disorder may be fatal around 3-4 years of age. Some children live longer.

Mucolipidosis II alpha/beta. Genetics Home Reference website. Accessed September 27, 2016.

Leroy JG, Cathey S, Friez MJ. Mucolipidosis II. GeneReviews website. Accessed September 27, 2016.

Mucolipidoses Fact Sheet. The National Institute of Neurological Disorders and Stroke website.

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