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.

• The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of pre-natal testing, is before pregnancy.
• Prospective parents can be screened for being carriers of ML4 with a simple blood test.
• If both parents are found to be carriers of ML4, or any other genetic disease, they should consult a genetic counselor. The carrier rate in Ashkenazi Jews is 1 in 100.
  
• A genetic counselor can provide important information and support, which may be helpful in making family planning decisions.

The carrier rate in the general population is unknown.

• Pre-implantation Genetic Diagnosis (PGD) maybe an option for prospective parents who are both carriers of ML4.

• If already pregnant, and both parents have been identified as ML4 carriers, amniocentesis can be performed.  This is usually performed at approximately 15 to 18 weeks gestation.

• ML4 is an inherited autosomal recessive disease.  If both parents are carriers, then each child has a 25% chance of inheriting the disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected (not even being a carrier).