Mucolipidosis IV Foundation

Welcome to the Mucolipidosis IV Foundation website at ml4.org. We hope you find our web design easy to use and the information helpful.

• Individuals with clinical findings/symptoms for ML4 can have a simple blood test to check for elevated gastrin levels.
• Molecular genetic testing of MCOLN1, the only gene known to be associated with ML4, confirms the diagnosis in most individuals.
• Two mutations of the gene account for 95% of mutations in individuals of Ashkenazi (Eastern European) heritage.