Mucolipidosis iii alpha/beta


What is mucolipidosis III alpha/beta?

Mucolipidosis III alpha/beta is a rare disorder. It is also called pseudo-Hurler polydystrophy. 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 III 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, which include fats and carbohydrates, 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 III can 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 and cardiovascular system. Mucolipidosis III is caused by changes in a gene called GNPTAB.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-10-18


Leroy LG, Cathey SS, Friez MJ. Mucolipidosis III Alpha/Beta. GeneReviews website. Accessed October 12, 2016.

Mucolipidosis III alpha/beta. Genetics Home Reference website. Accessed October 12, 2106.

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