Question

These two conditions are:

1.)Phenylketonuria (PKU): PKU is a genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. Without early detection and treatment, PKU can lead to intellectual and developmental disabilities. Newborns are screened for elevated levels of phenylalanine in their blood.

2.)Hypothyroidism (Congenital Hypothyroidism): Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. If left untreated, it can lead to developmental delays and other health issues. Newborns are screened for abnormal levels of thyroid hormones in their blood.

Answer 1

Phenylketonuria (PKU) is a genetic disorder affecting 1 in 15,000 births, characterized by insufficient breakdown of the amino acid phenylalanine due to enzyme deficiency, leading to developmental issues and neurological symptoms. Early detection through newborn screening and strict dietary management can reduce symptom severity and developmental impacts.

Step-by-step explanation:

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic disorder that affects approximately 1 in every 15,000 births in the United States. This condition arises due to the body's insufficient activity of the enzyme phenylalanine hydroxylase, leading to an inability to adequately convert the amino acid phenylalanine into tyrosine.

As phenylalanine accumulates in the body, toxic levels can cause severe damage to the central nervous system and brain. Symptoms of PKU may include hyperactivity, seizures, rash, tremors, and developmental delays, including intellectual disability.

It is critical for pregnant individuals with PKU to manage their phenylalanine levels, as excess amounts can cross the placenta and cause developmental issues in the fetus, such as heart defects and microcephaly. A stringent diet low in phenylalanine, avoiding sweeteners like aspartame and high-phenylalanine foods, is crucial for managing PKU. The earlier this diet is initiated after birth, based on newborn screening results, the better the outcomes in reducing symptom severity.