(MSCDFSM) Nutritional Biochemistry (TMA-2) ANSWER 2017

Q2. Name the defective enzyme in the following diseases:

a) Phenylketonuria

b) Galactosemia

c) Gaucher's disease

d) Lactose intolerance

e) Albinism

ANS(A)- Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. ... PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, the body is unable to break down phenylalanine.

ANS(B)- Galactosemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.

ANS(C)- The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.

ANS(D)- Lactose is a sugar molecule that is made up of two smaller sugars, glucose and galactose. In order for lactose to be absorbed from the intestine and into the body, it must first be split into glucose and galactose. The glucose and galactose are then absorbed by the cells lining the small intestine. The enzyme that splits lactose into glucose and galactose is called lactase, and it is located on the surface of the cells lining the small intestine.

ANS(E)- Albinism is an inherited disorder that's present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.