HubHip: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic: Mucolipidosis Type IV (4)

DescriptionMucolipidosis 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.

DescriptionMucolipidosis 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.

Mucolipidosis Type IV

Online Mendelian Inheritance in Man (Site) - A detailed history of the development of knowledge of ML4, diagnosis, pathogenesis, and chromosome information.
Mucolipidosis IV Foundation (Site) - ML4 Foundation, originally known as CHARM (Children's Association for Research on Mucolipidosis), reaching out to families affected with this debilitating disorder.
Jewish Genetic Diseases (Site) - With diagnostic information on ML4.
Clinical Trial: The Natural History and Pathogenesis of Mucolipidosis Type IV (Site) - An ongoing study into ML4, still recruiting patients in August 2006.

Last update: 2008-05-06 13:32:07 Mucolipidosis Type IV | Copyright 2008 HubHip.com