Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical
pseudo-hurler polydystrophy) are caused by mutations in the
GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
Kudo M, Brem MS, Canfield WM
For more information on Mucolipidosis II and mucolipidosis IIIA, please visit OMMBID Chapter 138.
Thank you very much in advance for your contributions to this blog.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator