Question

Describe Phenylketonuria (PKU) and Huntington's disease. what is something that both disease have in common.

Answer 1

Phenylketonuria (PKU) is an Inherited disorder that increases the levels of a substance called phenylalanine in the blood due to decrease in the metabolism of the amino acid phenylalanine. PKU is caused by a defect in the gene that helps to create an enzyme needed for the metabolism of the phenylalanine. Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. Symptoms like a musty smell in the breath, skin or urine, seizures, skin rashes (eczema), fair skin and blue eyes, abnormally small head (microcephaly), hyperactivity, intellectual disability, behavioral, emotional and social problems and psychiatric disorders.

Huntington's disease is an inherited progressive brain disorder in which degeneration of nerve cells in the brain takes place which is caused by a single defective gene on chromosome 4 (one of the 23 human chromosomes that carry a person's entire genetic code). This defect is "dominant," meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease.

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms such as involuntary jerking or writhing movements (chorea), muscle problems, such as rigidity or muscle contracture (dystonia), slow or abnormal eye movements, impaired gait, posture and balance and difficulty with the physical production of speech or swallowing.

Both PKU and Huntington's disease are inherited disorder which are caused due to defects in the particular gene, and both are responsible for the mental retardation due to neurodegenerative effect. However PKU is autosomal recessive while Huntington's disease is autosomal dominant means there is no skip in the generation.