Metachromatic Leukodystrophy

Introduction: Metachromatic Leukodystrophy

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 genetic ... 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.

Symptoms of Metachromatic Leukodystrophy

• Symptoms of the infantile form:
  • Onset of symptoms 6 months to 2 years
  • Mental deterioration
  • Hypotonia (low muscle tone)
  • Speech abnormalities

See full list of 41 symptoms of Metachromatic Leukodystrophy

Treatments for Metachromatic Leukodystrophy

• Symptomatic and supportive
• Bone marrow transplantation

Read more about treatments for Metachromatic Leukodystrophy

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Prognosis for Metachromatic Leukodystrophy

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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Reseach about Metachromatic Leukodystrophy

Visit our research pages for current research about Metachromatic Leukodystrophy treatments.

Clinical Trials for Metachromatic Leukodystrophy

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Metachromatic Leukodystrophy include:

• Stem Cell Transplantation (SCT) for Genetic Diseases - This study has been completed (Current: 23 Nov 2006)
• Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation - This study is no longer recruiting patients (Current: 23 Nov 2006)
• Stem Cell Transplant for Inborn Errors of Metabolism - This study is currently recruiting patients (Current: 23 Nov 2006) - Busulfan,Cyclophosphamide,ATG
• HSCT for High Risk Inherited Inborn Errors - This study is currently recruiting patients (Current: 23 Nov 2006) - Campath,Clofarabine
• Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism - This study is currently recruiting patients (Current: 23 Nov 2006) - anti-thymocyte globulin,cyclophosphamide,cyclosporine,filgrastim,methylprednisolone

Read more about Clinical Trials for Metachromatic Leukodystrophy

Types of Metachromatic Leukodystrophy

• Late infantile MLD - most common form
• Juvenile MLD
• Adult MLD

Read more about Types of Metachromatic Leukodystrophy

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Article Excerpts about 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 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)

Definitions of 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