Arylsulphatase A, Urine Collection
45Day(s)Arylsulfatase A is an enzyme that breaks down cerebroside 3-sulfate. A DEFICIENCY in this enzyme causes Metachromatic Leukodystrophy (MLD), which is an autosomal recessive lysosomal storage disease that affects nerves, muscles, behavior, and it slowly gets worse over time. Due to decreased levels of Arylsulfatase A, metachromatic lipids accumulate in the white matter of the CNS, peripheral nerves, kidney, spleen and other visceral organs. This accumulation causes central and peripheral demyelination.
متطلبات خاصة
24 Hours Urine Collection.
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