PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Most babies are tested for this disease at birth. The disease involves the inability to break down a certain amino acid in proteins. Failure to follow a closely monitored diet will result in mental retardation.
A
Hemophilia A
B
Sickle Cell Anemia
C
PKU
D
Tay-Sachs
Explanation: 

Detailed explanation-1: -Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.

Detailed explanation-2: -These include: Jerky movements in the arms and legs. Lighter skin and eyes (Babies who have PKU can’t properly make melanin, the pigment in the body that’s responsible for skin and hair color.) Musty body smell.

Detailed explanation-3: -Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the “building blocks” of protein.

Detailed explanation-4: -Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.

There is 1 question to complete.