Question

Mention the causes and effects of phenylketonuria

Answer 1

Hint: Phenylketonuria (PKU) is a disorder in which the phenylalanine amino acid builds up within the body. PKU is caused by a gene mutation.

Complete Answer:
- Phenylketonuria ( PKU) is a rare genetic disorder. Phenylketonuria allows the amino acid to build up in the body called phenylalanine. All proteins and certain artificial sweeteners contain phenylalanine.

- Phenylketonuria is caused by a gene defect that leads to the formation of phenylalanine hydroxylase. If this enzyme is absent, phenylalanine can not be broken down by the body. This allows phenylalanine to build up in your body.

- Symptoms of Phenylketonuria can vary from mild to extreme. The severest type of this condition is called classic Phenylketonuria.
- For the first few months of their life, an infant with classic Phenylketonuria may seem natural. If the baby is not treated for Phenylketonuria during this period, then the other symptoms may begin to develop. When the baby is one or two days old and still in the hospital, the screening test is carried out.

- Few symptoms are a musty smell in the air, skin or urine, caused in the body by too much phenylalanine. Neurological issues which may involve seizures, Hyperactivity, Skin rashes, etc.

- To inherit the condition, both parents must pass on a faulty version of the gene to their infant. If only one parent passes on an altered gene, the infant will have no signs because they will be a gene carrier.

Note: A dangerous phenylalanine buildup can occur while someone is consuming high-protein foods such as eggs and meat. PKU is an inherited disorder and so it can not be avoided.