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Dictionary » Metachromatic leukodystrophy

Metachromatic leukodystrophy

Introduction: Metachromatic leukodystrophy

Description of Metachromatic leukodystrophy

Metachromatic leukodystrophy (medical condition): An inherited biochemical deficiency involving a deficiency of the...more »

Metachromatic leukodystrophy: 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: 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.
Source: CRISP

Metachromatic leukodystrophy: Related Topics

These medical condition or symptom topics may be relevant to medical information for Metachromatic leukodystrophy:

Metachromatic leukodystrophy: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Metachromatic leukodystrophy as a "rare disease".

Source - Orphanet

Metachromatic leukodystrophy as a Disease

Metachromatic leukodystrophy (medical condition): See Metachromatic Leukodystrophy (disease information).
  »Introduction: Metachromatic Leukodystrophy
  »Symptoms of Metachromatic Leukodystrophy
  »Treatments for Metachromatic Leukodystrophy

Metachromatic leukodystrophy: Related Diseases

Metachromatic leukodystrophy: Metachromatic leukodystrophy is listed as a type of (or associated with) the following medical conditions in our database:

Metachromatic leukodystrophy: Article Excerpts

Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme... (Source: excerpt from NINDS Metachromatic Leukodystrophy Information Page: NINDS)

More information on medical condition: Metachromatic Leukodystrophy:

Metachromatic leukodystrophy: Related Disease Topics

These medical disease topics may be related to Metachromatic leukodystrophy:

lysosomal storage disease
arylsulphatase deficiency
autosomal recessive disorder
convulsions
paralysis
dementia
muscle rigidity

Terms associated with Metachromatic leukodystrophy:

Terms Similar to Metachromatic leukodystrophy:

Source: Diseases Database

Source - NIH

Broader terms for Metachromatic leukodystrophy

Source - CRISP

The term Metachromatic leukodystrophy can be used for:

Source: CRISP

Other terms that may be related to Metachromatic leukodystrophy:

autosomal recessive trait

Source: CRISP

External links related to: Metachromatic leukodystrophy

Source: Diseases Database

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