Metachromatic Leukodystrophy

Overview

Metachromatic leukodystrophy (MLD) is a genetically inherited disorder, passed on from parents to their biological child, in which the brain and nervous system progressively deteriorate, the person loses brain and body functions and eventually dies.

Mayo Clinic has experience in diagnosing and caring for patients with MLD, treating more than 150 such patients each year (the majority in Minnesota). Treatment programs are tailored to each individual and take into account the needs of the patient and family, while providing state-of-the-art care and access to new developments and appropriate clinical trials.

Diagnosis

The patient will first have a complete physical examination, along with a detailed history of symptoms and family inherited disorders, including metachromatic leukodystrophy. Various tests may be required to aid in an accurate diagnosis. Read more about metachromatic leukodystrophy diagnosis.

Treatment Options

Treatment options for metachromatic leukodystrophy are very limited. Bone marrow transplantation, when performed early in the course of the disease, has been used effectively on appropriate patients, but also poses some risk. Gene therapy research may eventually lead to a cure or treatment to slow the progression of MLD disease. Genetic testing and genetic counseling are strongly recommended for adults with a family history of MLD. Read more about metachromatic leukodystrophy treatment options.

• Treatment in Florida
• Treatment in Minnesota
• Treatment of Children & Adolescents

About Metachromatic Leukodystrophy

The genetic defect in metachromatic leukodystrophy is a deficiency of arylsulfatase A, an enzyme which breaks down a substance known as sulfatide. This is a fatty substance that is usually produced and then broken down by cells in the brain. When arylsulfatase A is deficient, sulfatides build up over time and eventually poison the brain, nerves and other body tissue, causing them to deteriorate.

The disease is rare. There are four forms of MLD, which are categorized based on the age when the first symptoms appear and how quickly the patient declines in function. Initial symptoms of the disease can be confused with other diseases or disorders.