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What is primary enzyme deficiency caused from?
Primary enzyme deficiencies are typically caused by genetic mutations that affect the production or function of a specific enzyme in the body. These mutations can disrupt the normal metabolic processes that rely on the affected enzyme, leading to a deficiency in its activity and subsequent symptoms or health problems.
What causes Sanfilippo syndrome Type A?
caused by a deficiency of the enzyme heparan sulfate sulfamidase, due to mutations in the SGSH gene on chromosome 17. Type IIIA is felt to be the most severe of the four types, in which symptoms appear and death occurs at an earlier age
What genetic abnormality causes phenylketonuria?
Phenylketonuria (PKU) is caused by mutations in the PAH gene, which provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme is essential for the breakdown of the amino acid phenylalanine. Mutations in the PAH gene lead to a deficiency in this enzyme, resulting in a build-up of phenylalanine in the body.
What is caused by a deficiency of the enzyme Beta hexosaminidase A?
A deficiency of the enzyme Beta hexosaminidase A leads to Tay-Sachs disease, a rare genetic disorder that results in the progressive destruction of nerve cells in the brain and spinal cord. Symptoms typically appear in infancy and include developmental delays, loss of motor skills, and eventually, blindness and seizures.
What occurs when there is a deficiency of the enzyme alpha-galactosidase A?
Without the alpha-galactosidase A enzyme, fatty compounds starts to line the blood vessels.
What is primary enzyme deficiency caused from?
Primary enzyme deficiencies are typically caused by genetic mutations that affect the production or function of a specific enzyme in the body. These mutations can disrupt the normal metabolic processes that rely on the affected enzyme, leading to a deficiency in its activity and subsequent symptoms or health problems.
How does pyruvate kinase deficiency affect the body?
PKD is caused by a deficiency in the enzyme, pyruvate kinase.
What enzyme deficiency causes disease?
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
What is Krabbe's disease caused by?
Krabbe's disease is caused by a deficiency of the enzyme galactoside beta-galactosidase.
What is difference between primary and secondary nutritional deficiencies?
A primary nutritional deficiency is caused by a simple lack of the nutrient in the diet. For instance, cats that are fed strictly fish develop a primary taurine deficiency because the fish don't have enough taurine in them. A secondary nutritional deficiency is caused by another disease process limiting the amount of the nutrient available to the body. For instance, a cow may develop secondary B12 deficiency if it eats too much of certain weeds that have a vitamin B12-destroy enzyme.
Gaucher disease is caused by a deficiency in what enzyme?
The genetic defect causes a deficiency of the enzyme glucocerebrosidase that is responsible for breaking down a certain type of fat and releasing it from fat cells.
What enzyme is absent or defective in tay sach's disease?
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
What is the cause of acid phosphatase deficiency?
Acid phosphatase deficiency is primarily caused by genetic mutations that affect the production or function of the enzyme. It can also be acquired through certain medical conditions or drug use that impairs enzyme activity.
What type of deficiency is caused by inadequate absorption of a nutrient?
A nutrient deficiency caused by inadequate absorption is known as a malabsorption deficiency. This can occur when the body is unable to effectively absorb specific nutrients, such as vitamins or minerals, due to issues with digestion or absorption processes in the intestines. It can lead to various health complications if not adequately addressed.
What causes Wolman's disease?
Wolman's disease is caused by a genetic defect (with a recessive pattern of inheritance) that results in deficiency of an enzyme that breaks down cholesterol.
What range of symptoms may result from enzyme deficiency?
The severity of the symptoms depends on the extent of the enzyme deficiency, and range from a feeling of mild bloating to severe diarrhea.
Which of the following is caused by mineral deficiency A) beriberi B)goitre C)scurvy D)night blindness?
Beriberi is caused by thiamine (vitamin B1) deficiency Goitre can be caused by iodine deficiency - although there are other potential causes. Scurvy is caused by vitamin C deficiency Night blindness (Nyctalopia) can have many different causes - but one cause is vitamin A deficiency.
