Affecting one in 50,000 people, MLD is a rare genetic disorder where the enzyme (arylsulfatase A, or “ASA”), which normally breaks down the lipid sulfatide, is missing. The resulting build up of sulfatide in the central nervous system causes progressive deterioration and eventual death.  Normally, nerve endings are covered with a myelin sheath which heals speed the communication of nerve impulses. The sulfatide causes the myelin to break down, affecting the patient’s coordination and mental development.

MLD can manifest itself at three distinct stages in life.  Type I, Late Infantile, appears between 6 months and 2 years of age. The child will develop normally until the onset of the disease, at which point parents will first begin to notice low muscle tone.  She/he will be slow in learning to walk, or begin to stagger and fall frequently. Eventually, the child will lose any abilities she/he had once acquired, including:  speaking, moving and swallowing.  Eventually the child will need to be tube fed, and death usually occurs three to five years after onset.

Type II, Juvenile Form MLD, appears between ages 4 and 12.  The disease first affects the ability to walk and the child’s posture. Mentally, the child will have emotional difficulties, have trouble following directions, develop abnormal behaviors, and spend an unusual amount of time daydreaming. This physical and mental deterioration will continue until death occurs four to six years after onset.

In Type III, Adult Form MLD, the cognitive abnormalities appear first, often causing the disease to be misdiagnosed as schizophrenia. The patient will display personality changes:  appearing anxious, apathetic, bewildered and psychotic.  They may begin to show poor school or job performance. Physically, they will become clumsier, have slurred speech and become blind.  Usually death follows five to 10 years after diagnosis.

Because MLD is genetic, it is difficult to cure.  Current approaches to MLD include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children.  For MLD patients, a variety of treatments have been tried. The goal of treatment is to get the missing enzyme into the body. Unfortunately, directly injecting ASA into the bloodstream has proven unsuccessful, since the enzyme cannot make it from there to the brain. Injecting ASA directly into the brain has not worked either, because not enough of the enzyme is absorbed.

To introduce ASA into the body, both gene therapy and BMT are being used in clinical trials. In gene therapy, researchers use a virus to place the gene that produces ASA into the patient’s cells.  BMT is used to place in the body bone marrow cells with the correct gene. These marrow cells are able to travel to the brain much easier. BMT is the only effective treatment currently available. On a case-by-case basis, patients (in early stages of MLD) receiving BMT have demonstrated improved development and an increase in ASA production.