Metachromatic Leukodystrophy : Articles

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, and other organs. It gets progressively worse over time. MLD is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemicals called sulfatides accumulate in the nervous system, kidneys, gallbladder, and other organs. The sulfatides damage the nerves and organs where buildup occurs. In particular, it damages the myelin sheaths that surround nerve cells. There are three forms, based on when the symptoms begin: Late infantile -- symptoms usually begin by age 4. The symptoms include problems walking, loss of muscle control, and loss of mental functions. Juvenile -- symptoms begin between 4 and 6 years old. The child has trouble walking and loses developmental milestones. The first sign may be deteriorating school performance. Adult -- the late juvenile (age 6-16 age) and adult (over age 16) forms progress slowly. Early signs may be behavior problems, loss of mental functions, poor school or work performance, seizures, and loss of muscle control.

Metachromatic leukodystrophy (MLD) is a rare degenerative neurological disease, and is the most common form of the leukodystrophies, a group of disorders affecting the fatty covering that acts as an insulator around nerve fibers known as the myelin sheath. With destruction of the myelin sheath, progressive deterioration of muscle control and intellectual ability occurs.