alexa Metachromatic leukodystrophy | Brazil | PDF | PPT| Case Reports | Symptoms | Treatment

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Metachromatic Leukodystrophy

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  • Metachromatic leukodystrophy

    Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter.

  • Metachromatic leukodystrophy

    Causes: Metachromatic leukodystrophy (MLD) is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemicals called sulfatides build up in and damage the nervous system, kidneys, gallbladder, and other organs. In particular, the chemicals damage the protective sheaths that surround nerve cells. The disease is passed down through families (inherited). 

  • Metachromatic leukodystrophy

    Diagnosis: Tests that may be done include: Blood or skin culture to look for low arylsulfatase A activity, Blood test to look for low arylsulfatase A enzyme levels, CT scan, DNA testing for the ARSA gene, MRI, Nerve biopsy, Nerve signalling studies, Urinalysis, Urine chemistry.

  • Metachromatic leukodystrophy

    Metachromatic leukodystrophy (MLD) is a lysosomal disorder caused by arylsulfatase A (ARSA) deficiency. It is classified into three forms according to the age of onset of symptoms (late infantile, juvenile, and adult). We carried out a cross-sectional and retrospective study, which aimed to determine the epidemiological, clinical, and biochemical profile of MLD patients from a national reference center for Inborn Errors of Metabolism in Brazil.

 

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