Inhereted Diseases/ MLD

Metachromatic Leukodystrophy Metachromatic Leukodystrophy (MLD) is a member of a class called lysosomal storaged disorders. In these diseases patients don't have the protein needed to metabolize the food we eat. MLD is an inherited disease that is caused by the absence of the enzyme arylsufatasase A. In which causes a material called cerebroside sulfate to accumulate in the cells. There are three forms of MLD, they are: late infantile, juvenile, and adult. Late infantile is …

…too much. For MLD carriers, a reliable and economic general screening system is not yet available. The high frequency of the Pseudodeficiecncy allele makes it difficult to rely on enzyme activities alone. The prognosis for Metachromatic Leukodystrophy is very poor. Death may occur between 3 to 6 years after onset, with the infantile form. In the juvenile and adult forms, the progression of symptoms is slower and those affected may live a decade or more after diagnosis.