Metachromatic Leukodystrophy: Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of ... more about Metachromatic Leukodystrophy.
Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body. More detailed information about the symptoms, causes, and treatments of Metachromatic Leukodystrophy is available below.
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Prognosis for Metachromatic Leukodystrophy: Poor. Life-shortening. Often death 3-6 years after onset for infantile form; death within 6-14 years of onset for other forms.
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Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -which acts as an insulator - on nerve fibers in the brain. (Source: excerpt from NINDS Metachromatic Leukodystrophy Information Page: NINDS)
An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5) - (Source - Diseases Database)
Metachromatic Leukodystrophy is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Metachromatic Leukodystrophy, or a subtype of Metachromatic Leukodystrophy,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Metachromatic Leukodystrophy as a "rare disease".
Source - Orphanet
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