Directory of Mucolipidosis Type IV Resources

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Mucolipidosis Type IV is an autosomal recessive disorder, mainly seen in Jews of Eastern European background. A cation channel disorder, characterized by severe neurological and ophthalmologic abnormalities, ML4 usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with ML4 typically reach a maximum developmental age of 15 months.

Resources in This Category

• Clinical Trial: The Natural History and Pathogenesis of Mucolipidosis Type IV

  http://www.clinicaltrials.gov/ct/gui/show/NCT00015782
  An ongoing study into ML4, still recruiting patients in August 2006.

• Mucolipidosis IV Foundation

  http://www.ml4.org/
  ML4 Foundation, originally known as CHARM (Children's Association for Research on Mucolipidosis), reaching out to families affected with this debilitating disorder.

• Online Mendelian Inheritance in Man

  http://omim.org/entry/252650
  A detailed history of the development of knowledge of ML4, diagnosis, pathogenesis, and chromosome information.

Related Categories

• Home > Health > Conditions and Diseases > Genetic Disorders
• Home > Health > Conditions and Diseases > Nutritional and Metabolic Disorders > Inherited > Mucolipidosis
• Home > Society > Ethnicity > Jewish > Ashkenazi

 

Home > Health > Conditions and Diseases > Neurological Disorders > Brain Diseases > Metabolic > Mucolipidosis Type IV

 

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