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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
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.
Can the thyroid gland swell?
You have the common disease of the endocrine system that is called GOITER.
What breaks down N-acetylaspartic acid?
Aspartoacylase breaks down N-acetylaspartic acid
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 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.
