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Mucolipidosis Type IV a Rare Genetic Disorder: New Addition to the Ashkenazi Jewish Panel


  • Roxann M. Gordon RN, BSN, SNM,

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    • Roxann Gordon, RN, BSN, SNM, is a childbirth educator, doula, and mother of three. She is currently pursuing her MS at Georgetown University.

  • Teresa Marchese CNM, PhD, FACNM

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    • Teresa Marchese, CNM, PhD, FACNM, is an assistant professor in the Nurse-Midwifery program at Georgetown School of Nursing and Health Studies and a staff midwife for Unity Health Care in the District.

Georgetown University School of Nursing and Health Studies, 3800 Reservoir Road, NW, Washington, DC 20057-1107. E-mail:


Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. Current information available about testing options and the Ashkenazi Jewish Screening panel, including the addition of screening for MLIV, is presented. The importance of genetic screening and counseling is emphasized.