Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.
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Three of the children had metachromatic leukodystrophy, which causes children to lose cognitive and motor skills.
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This then results in demyelination because of the buildup of sulfatide and is the main cause of Metachromatic Leukodystrophy.
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For more on this story, metachromatic leukodystrophy and related links, go to http : / / www . ajc . com
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The girls, healthy until two years ago, have been rendered helpless by a rare and fatal genetic disease called metachromatic leukodystrophy.
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Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders.
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The main members of this group are Niemann Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay Sachs disease and metachromatic leukodystrophy.
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Eds : Photo is of a hospice worker and a terminally ill girl, Sholanda Benson, who has metachromatic leukodystrophy, a fatal genetic disease.
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The Foundation's beginnings were inspired by Dr . Sam Stennis, a former optometrist in Amarillo, Texas, who, at age 47, was diagnosed with adult-onset Metachromatic leukodystrophy.
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They further investigated the role of steroid sulfatases in metachromatic leukodystrophy and multiple sulfatase deficiency, and they identified acid ceramidase as the enzyme deficient in Farber s disease.
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