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Pseudo-Hurler Polydystrophy (ML III) is part of a
class of diseases known as the mucolipidoses. The disorder was first
described by two French physicians in 1966; they called it Pseudo-Hurler
because it resembled a mild form of Hurler disease, one of the mucopolysaccharide
(MPS) diseases. Polydystrophy refers to abnormalities in the organs.
The disorder is often classified as a “targeting” defect, meaning
that the lysosomal enzymes are lacking the signal that targets them to
the lysosome and they end up in other parts of the cell and are unable
to do their work. The lack of this signal is due to a deficiency
in the enzyme N-acetylglucosamine-1-phototransferase, as in ML II, I-Cell
Disease. |