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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucolipidosis type 4


Other Names for this Disease
  • ML 4
  • Berman syndrome
  • Ganglioside neuraminidase deficiency
  • Ganglioside sialidase deficiency
  • Mucolipidosis type IV
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Overview

Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 1/21/2016

References

  1. Mucolipidosis type IV. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv.
  2. Raphael Schiffmann, MD, MHSc, Yulia Grishchuk, PhD, and Ehud Goldin, PhD. Mucolipidosis IV. GeneReviews. July 2015; http://www.ncbi.nlm.nih.gov/books/NBK1214/.
  3. Mucolipidoses Fact Sheet. National Institute of Neurological Disorders and Stroke. June 2015; http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm.
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Basic Information

In Depth Information

  • 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 type 4. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ML 4
  • Berman syndrome
  • Ganglioside neuraminidase deficiency
  • Ganglioside sialidase deficiency
  • Mucolipidosis type IV
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.