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Diseases

Genetic and Rare Diseases Information Center (GARD)

I cell disease


Other Names for this Disease
  • Mucolipidosis 2
  • ML 2
  • ICD
  • GNPTA
  • Inclusion cell disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids).[1] Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers.[2] ML II can also cause heart valve abnormalities and repeated respiratory infections. This reduces the individual’s ability to breathe effectively and typically results in death by early adolescence. ML II is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. ML II is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing.[3] Treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising.[4]
Last updated: 7/19/2016

References

  1. I Cell Disease. National Organization for Rare Disorders; 2007; http://rarediseases.org/rare-diseases/i-cell-disease/.
  2. Mucolipidosis II alpha/beta. Genetics Home Reference; May 2015; https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta.
  3. Jules G Leroy, MD, PhD, Sara Cathey, MD, FACMG, and Michael J Friez, PhD. Mucolipidosis II. GeneReviews; May 10, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1828/.
  4. Ah-Ra Ko, Dong-Kyu Jin, Sung Yoon Cho, Sung Won Park, Malgorzata Przybylska, Nelson S. Yew, Seng H. Cheng, Jung-Sun Kim, Min Jung Kwak, Su Jin Kim, Young Bae Sohn. AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II. Molecular Genetics and Metabolism. April 2016; 117(4):447-455. http://www.ncbi.nlm.nih.gov/pubmed/26857995.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss I cell disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mucolipidosis 2
  • ML 2
  • ICD
  • GNPTA
  • Inclusion cell disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.