overview
Metachromatic leukodystrophy is a rare hereditary disease in which fat cells (lipids) accumulate in cells, particularly in the brain, spinal cord, and peripheral nerves. This build-up is caused by a lack of an enzyme that helps break down lipids called sulfatides. The brain and nervous system gradually lose their function because the substance that covers and protects nerve cells (myelin) is damaged.
There are three forms of metachromatic leukodystrophy that involve different age groups: the late childhood form, the adolescent form, and the adult form. Signs and symptoms can vary. The child form is the most common and progresses faster than the other forms.
There is still no cure for metachromatic leukodystrophy. Depending on the shape and age of onset, early detection and treatment can help manage certain signs and symptoms and delay the progression of the disorder. Metachromatic leukodystrophy Treatment in Hyderabad
symptoms
Damage to the protective myelin that lines nerves leads to progressive deterioration in the functions of the brain and nervous system, including:
- Loss of ability to perceive sensations such as touch, pain, heat, and sounds
- Loss of intellectual ability, thinking, and memory
- Loss of motor skills such as walking, moving, speaking, and swallowing
- Stiff and stiff muscles, poor muscle function and paralysis
- Loss of bladder and bowel function
- Gallbladder problems
- blindness
- Hearing loss
- Seizures
The reasons
Metachromatic leukodystrophy is a hereditary disease caused by an abnormal (mutated) gene. The condition is inherited in an autosomal recessive pattern. The abnormally recessive gene is on one of the non-sex chromosomes (autosomes). To inherit an autosomal recessive disorder, both parents must be carriers, but they usually don’t show signs of the disease. The affected child inherits two copies of the abnormal gene – one from each parent.
The most common cause of metachromatic leukodystrophy is a mutation in the ARSA gene. This mutation causes the lack of an enzyme that breaks down lipids called sulfatides that accumulate in myelin.
In rare cases, metachromatic leukodystrophy is caused by a lack of another type of protein (activator protein) that breaks down sulfides. This is caused by a mutation in the PSAP gene. Metachromatic leukodystrophy Treatment in Hyderabad