alexa Metachromatic leukodystrophy | Norway | 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.

  • Metachromatic leukodystrophy

    Symptoms: Juvenile MLD symptoms usually begin between ages 4 and 12, Abnormal high muscle tone, abnormal muscle movements, Behaviour problems, Decreased mental function, Decreased muscle tone, Difficulty walking, Feeding difficulties, Frequent falls, Inability to perform normal tasks, Incontinence, Irritability, Loss of muscle control, Nerve function problems, Personality changes, Poor school performance, Seizures, Speech difficulties, slurring, Swallowing difficulty.

  • 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.
    Treatment: There is no cure for MLD. Care focuses on treating the symptoms and preserving the patient's quality of life with physical and occupational therapy.

  • Metachromatic leukodystrophy

    The present paper reviews most of the research on mental retardation in Norway, published in 1970-1980. An important part of this work is represented by Hole's reports of experimental phenylketonuria (PKU) in the rat and studies on peptides and protein-associated peptide complexes in mental disturbances, including experimental studies of effects on brain function and behavior of a peptide fraction.

 

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