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Diseases » Metachromatic Leukodystrophy » Summary

What is Metachromatic Leukodystrophy?

Contents

Metachromatic Leukodystrophy: Introduction
Types of Metachromatic Leukodystrophy
Prognosis
Complications
Other names for Metachromatic Leukodystrophy
Who gets Metachromatic Leukodystrophy?
What causes Metachromatic Leukodystrophy?
What are the symptoms of Metachromatic Leukodystrophy?
Organs Affected by Metachromatic Leukodystrophy
Can anyone else get Metachromatic Leukodystrophy?
How is it treated?
Metachromatic Leukodystrophy: Introduction

What is 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.
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 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

Metachromatic Leukodystrophy: Introduction

Types of Metachromatic Leukodystrophy:

Types of Metachromatic Leukodystrophy:

Late infantile MLD - most common form
Juvenile MLD
Adult MLD
more types...»

Broader types of Metachromatic Leukodystrophy:

Who gets Metachromatic Leukodystrophy?

Patient Profile for Metachromatic Leukodystrophy: onset at 6 months to 2 years for infantile form; 4-14 years for juvenile; after 16 for adult form.

How serious is Metachromatic Leukodystrophy?

Prognosis of 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.
Complications of Metachromatic Leukodystrophy: see complications of Metachromatic Leukodystrophy
Prognosis of Metachromatic Leukodystrophy: The prognosis for MLD is poor. Death generally occurs within 6 to 14 years after onset of symptoms. In the infantile form death may occur between 3 and 6 years after onset. (Source: excerpt from NINDS Metachromatic Leukodystrophy Information Page: NINDS)

What are the symptoms of Metachromatic Leukodystrophy?

Symptoms of Metachromatic Leukodystrophy: see symptoms of Metachromatic Leukodystrophy

Complications of Metachromatic Leukodystrophy: see complications of Metachromatic Leukodystrophy

Can anyone else get Metachromatic Leukodystrophy?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Metachromatic Leukodystrophy: Testing

Diagnostic testing: see tests for Metachromatic Leukodystrophy.

Misdiagnosis: see misdiagnosis and Metachromatic Leukodystrophy.

How is it treated?

Treatments for Metachromatic Leukodystrophy: see treatments for Metachromatic Leukodystrophy
Research for Metachromatic Leukodystrophy: see research for Metachromatic Leukodystrophy

Organs Affected by Metachromatic Leukodystrophy:

Organs and body systems related to Metachromatic Leukodystrophy include:

Name and Aliases of Metachromatic Leukodystrophy

Main name of condition: Metachromatic Leukodystrophy

Class of Condition for Metachromatic Leukodystrophy: genetic

Other names or spellings for Metachromatic Leukodystrophy:

MLD, Metachromatic leukoencephalopathy, Sulfatide lipidosis, Arylsulfatase A deficiency, Cerebral sclerosis, diffuse, metachromatic form, Cerebroside sulfatase deficiency, ARSA deficiency

Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis, Sulphatide lipidosis, Sulphatidosis, Van Bogaert-Nijssen disease, Arylsulphatase A deficiency Source - Diseases Database

Arylsulfatase A deficiency, Cerebral sclerosis, diffuse, metachromatic form, Cerebroside sulfatase deficiency, Grreenfield disease, MLD, Scholz-Greenfield disease, Sulfatide lipidosis, Scholz-Greenfield disease, Sulfatide lipidosis, Leukodystrophy, metachromatic, Arylsulfatase A deficiency, Cerebral sclerosis, diffuse, metachromatic form, Cerebroside sulfatase deficiency, Grreenfield disease, Scholz-Greenfield disease, Sulfatide lipidosis, Leukodystrophy, metachromatic, Arylsulfatase A deficiency, Cerebral sclerosis, diffuse, metachromatic form, Cerebroside sulfatase deficiency, Grreenfield disease, MLD
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)