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What is Canavan disease also called?
Canavan disease is also called aspartoacylase deficiency
What does Aspartoacylase do?
Aspartoacylase is responsible for breaking down a substance called N-acetylaspartic acid (NAA)
Why is aspartoacylase deficiency bad?
This deficiency ultimately results in progressive damage to the brain and nervous system and causes mental retardation, seizures, tremors , muscle weakness, blindness and an increase in head size
What happens when aspartoacylase is decreased?
When the body produces decreased levels of aspartoacylase, a build-up of NAA results
What leads to Canavan disease?
It results when the body produces less than normal amounts of a protein called aspartoacylase
Which anemia is also called hypochromic anemia?
Iron-deficiency anemia
Can the thyroid gland swell?
A deficiency that causes the thyroid gland to swell is iodine deficiency. This is also believed to be the main cause of goiter.
Is Canavan disease caused by a mutation?
Yes, Canavan disease is caused by a mutation in the ASPA gene. This gene provides instructions for making an enzyme called aspartoacylase, which is essential for the breakdown of a compound called N-acetylaspartate. Mutations in the ASPA gene lead to the accumulation of N-acetylaspartate in the brain, causing the characteristic features of Canavan disease.
What is a deficiency of Na in the blood called?
A deficiency of Na in the blood is called hyponatremia. It is a deficient amount of sodium in the blood.
What breaks down N-acetylaspartic acid?
Aspartoacylase breaks down N-acetylaspartic acid
What is manifest iron deficiency?
low level of HB in blood is called manifest iron deficiency.
An immediate consequence of a cellular deficiency of oxaloacetate is a slowing of what?
An immediate consequence of a cellular deficiency of oxaloacetate is the slowing of the Citric Acid Cycle. The citric acid cycle is also called the tricarboxylic acid cycle.
