What does the ARSA gene do?

The ARSA gene provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell’s recycling centers. Within lysosomes, arylsulfatase A helps process substances known as sulfatides.

What is ARSA enzyme?

Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.

How do you inherit leukodystrophy?

Most of the leukodystrophies are inherited, which means they’re passed down through family genes. Some may not be inherited, but are still caused by a genetic mutation. One child in your family could have leukodystrophy, and others might not.

Is metachromatic leukodystrophy fatal?

Leukodystrophies are progressive, so the neurological problems get worse over time. They’re usually fatal. Many children with leukodystrophy die before their teenage years. Some people survive into adulthood.

What is metachromatic leukodystrophy?

Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This buildup is caused by a deficiency of an enzyme that helps break down lipids called sulfatides.

Where is the ARSA gene located?

The ARSA gene has 8 exons, which are located on chromosome 22 (22q13. 33).

What causes ARSA heart?

An aberrant right subclavian artery (ARSA) is a rare vascular anomaly that is believed to induce feeding and swallowing difficulties in 20\% of the patients, caused by dorsal compression of the esophagus by the anomalous artery.

Who treats leukodystrophy?

At Mayo Clinic, a team of doctors trained in nervous system conditions (neurologists), genetic disorders (medical geneticists) and other specialties work together as a team to care for people with metachromatic leukodystrophy.

Is leukodystrophy painful?

Symptoms of metachromatic leukodystrophy may include seizures, personality changes, spasticity, progressive dementia, painful paresthesias, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.

What is the life expectancy of someone with leukodystrophy?

Children diagnosed with late infantile MLD typically live another five to 10 years. In juvenile MLD, the life expectancy is 10 to 20 years after diagnosis. If the symptoms don’t appear until adulthood, people typically live 20 to 30 years after the diagnosis.

Can leukodystrophy affect the brain?

Leukodystrophy refers to a group of genetic conditions that affect the white matter of the brain. Leukodystrophy causes loss of normal brain functions. Symptoms of leukodystrophy can vary. Most leukodystrophies do not have a cure, but therapies are being developed that can help stop the condition from getting worse.

What does Arylsulfatase B do?

Arylsulfatase B is among a group of arylsulfatase enzymes present in the lysosomes of the liver, pancreas, and kidneys of animals. The purpose of the enzyme is to hydrolyze sulfates in the body. ARSB does this by breaking down glycosaminoglycans (GAGs), which are large sugar molecules in the body.

What is the function of the arsA gene?

The ARSA gene provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell’s recycling centers. Within lysosomes, arylsulfatase A helps process substances known as sulfatides.

Can ARSA be caused by chromosomal abnormalities?

Both of those conditions are seen more frequently in babies with an ARSA: if such a change in information within the chromosomes occurs, it would be the cause for the ARSA. However in most cases of ARSA, no chromosomal defect is identified and no genetic cause of the ARSA is determined. Should I have more tests done?

Should I be worried about ARSA?

Most people with ARSA have no symptoms, and are most likely not aware that they have this variant. By itself, ARSA is not a very worrying finding. If the ARSA is isolated, your caregiver or your baby’s pediatrician can advise you what to watch for in your newborn.

What tests are done to test for ARSA?

Tests that may be done include: Blood or skin culture to look for low arylsulfatase A activity. Blood test to look for low arylsulfatase A enzyme levels. DNA testing for the ARSA gene. MRI of the brain. Nerve biopsy. Nerve signaling studies. Urinalysis.