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KMID : 1146120160020010019
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Journal of Mucopolysaccharidosis and Rare Diseases
2016 Volume.2 No. 1 p.19 ~ p.22
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Prenatal Diagnosis of Mucolipidosis Type II: Comparison of Biochemical and Molecular Analyses
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Kosuga Motomichi
Okada Michiyo
Migita Osuke
Tanaka Toju
Sago Haruhiko
Okuyama Torayuki
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Abstract
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Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age.
Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester.
Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.
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KEYWORD
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Mucolipidosis type II, Prenatal diagnosis, Lysosomal storage disorder, Alpha/beta GlcNAc-1-phosphotransferase gene
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