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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucolipidosis III alpha/beta


Other Names for this Disease
  • ML3
  • ML 3 A
  • Pseudo-Hurler polydystrophy
  • Mucolipidosis type 3A
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 III (ML III) is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis), which causes pain and may lead to bone fractures.[1] Heart deformities and repeated respiratory infections can reduce the individual’s ability to breathe effectively and may result in death during mid-adulthood. ML III is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. Mucolipidosis III is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing.[2] Treatment is focused on relieving the individual symptoms of each person. 
Last updated: 7/19/2016

References

  1. Mucolipidosis III alpha/beta. Genetics Home Reference; October 2014; https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta#genes.
  2. Jules G Leroy, MD, PhD, Sara S Cathey, MD, FACMG, and Michael J Friez, PhD. Mucolipidosis III Alpha/Beta. GeneReviews; May 10, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1875/.
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Basic Information

In Depth Information

  • 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 Mucolipidosis III alpha/beta. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ML3
  • ML 3 A
  • Pseudo-Hurler polydystrophy
  • Mucolipidosis type 3A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.