Skip navigation | ||
|
||
Medical Encyclopedia |
|
Other encyclopedia topics: | A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9 |
Contents of this page: | |
Alternative names
MLD; Arylsulfatase A deficiencyDefinition Return to top
Metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside sulfate to accumulate in cells. This is toxic to the cell, especially neurons (the cells of the nervous system) and causes the problems of the disease.
MLD is a member of a class of diseases called lysosomal storage disorders. In these diseases, patients lack a protein needed to metabolize the food we eat.
Causes, incidence, and risk factors Return to top
Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents to be affected.
MLD has a wide range of symptoms. As with many other storage diseases, there are forms of early and delayed onset (late infant, juvenile, and adult types).
The most common and most severe form is the late infant onset form, which has symptoms such as irritability, decreased muscle tone, muscle wasting, and the loss of the ability to walk in babies who have started walking. The disease progresses to blindness, seizures, and partial paralysis. Death occurs usually before age 10.
Both the juvenile and adult forms have similar symptoms. In the adult and juvenile forms, psychosis and emotional disturbances are often part of the illness. Patients can be misdiagnosed with a psychiatric disorder before the diagnosis of MLD is made. The juvenile form is fatal within a few years of diagnosis. The adult form may be drawn out over many years.
Symptoms Return to top
Signs and tests Return to top
Signs include:Treatment Return to top
At present, there is no treatment for metachromatic leukodystrophy itself. Symptomatic treatments may provide mild relief. Bone marrow tranplants have been performed in a small number of patients.Support Groups Return to top
The United Leukodystrophy Association can be reached at www.ulf.org or call 800-728-5483.
Expectations (prognosis) Return to top
Metachromatic leukodystrophy is a severely debilitating progressive disease whose outcome is fatal.Complications Return to top
Calling your health care provider Return to top
Call your health care provider if you have a family history of this disease or if you notice symptoms suggestive of this disorder.Prevention Return to top
Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy. Update Date: 2/5/2003 Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Home | Health Topics | Drug Information | Encyclopedia | Dictionary | News | Directories | Other Resources | |
Copyright | Privacy | Accessibility | Selection Guidelines U.S. National Library of Medicine, 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health | Department of Health & Human Services |
Page last updated: 28 October 2004 |