Mucolipidosis IV (MLIV) is a progressive disease which affects the brain and nervous system. The specific cause of this disorder has not been identified. Most reported cases of this disease have been severe with onset during the first year of life, but some individuals with milder disease have also been seen. No effective treatment is available.
Disease frequency:
Unknown.
Carrier frequency:
1 in 100 in Ashkenazi Jews.
Diagnosis:
Made by a physician knowledgeable of symptoms of MLIV or by genetic testing of the MLIV gene by a blood test.
Inheritance:
Autosomal Recessive.
Carrier Testing:
Available through genetic testing of the MLIV gene. Testing can identify 95% of Ashkenazi Jewish carriers.
Prenatal diagnosis:
Done by genetic testing of the MLIV gene. Testing is available to those with a previously affected child or to couples found to be at risk by carrier testing.
