Mucolipidosis iv

Overview

What is mucolipidosis IV?

Mucolipidosis IV is a rare 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 IV lack a protein. This protein is called mucolipin-1 and is found in the membrane of endosomes and lysosomes. Endosomes are compartments within certain cells that break down (degrade) substances that are carried to 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. Researchers aren't sure what mucolipin-1 does, but it is critical for the proper function of endosomes and lysosomes. Because lysosomes can't function properly, the substances they are supposed to break down start to build up. Eventually this damages the affected area and organs. People with mucolipidosis IV have problems with the brain including intellectual disability, the eyes including vision loss, and the kidneys including kidney failure. Some people have atypical mucolipidosis IV, which is a less severe form. Mucolipidosis IV is caused by changes in a gene called MCOLN1. Most people live well into adulthood.

References
  • Mucolipidosis type IV. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv#
  • Schiffmann R, Grishchuk Y, Goldin E. Mucolipidosis IV. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1214/
  • Mucolipidosis IV. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/mucolipidosis-iv/
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Are there other names for mucolipidosis IV?

How common is mucolipidosis IV?

Are there other names for mucolipidosis IV?

Mucolipidosis IV is the name most doctors and people use for this disorder. There are some others names that can be used, but they are less common. These names are:

  • Berman Syndrome
  • Ganglioside Neuraminidase Deficiency
  • Ganglioside Sialidase Deficiency
  • MLIV
  • Neuraminidase Deficiency
  • Sialolipidosis
References
  • Mucolipidosis IV. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/mucolipidosis-iv/
  • Mucolipidosis type IV. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv#
How common is mucolipidosis IV?

Mucolipidosis IV is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the number of new people with a disorder or newly-diagnosed within a given year. The disorder is estimated to affect about 1 in 40,000 people in the general population. Initially, about 70% of people with mucolipidosis IV were of Ashkenazi Jewish descent. The Ashkenazi are people descended from certain Jewish people who lived in Central and Eastern Europe. The carrier rate in this population is about 1 in 100. Carrier rate refers to the number of people with one altered MCOLN1 gene (rather than the two altered genes required for the disorder). In recent years, as more diagnostic testing has improved, more people who aren't of Ashkenazi descent have been identified with mucolipidosis IV.

References
  • Mucolipidosis type IV. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv#
  • Schiffmann R, Grishchuk Y, Goldin E. Mucolipidosis IV. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1214/

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