Question

Ayesha was born weighing 6 lb, 7 oz and her 1-day newborn

screening test result for phenylalanine (Phe) was 3.7 mg/dL (222
μmol/L). She was breastfed with no supplemental formula. A repeat
sample was

Answer 1

Phenylketonuria (PKU) is a genetic disorder characterized by the inability to break down phenylalanine. Individuals with PKU need to follow a strict diet that is low in phenylalanine to avoid symptoms and damage. Elevated phenylalanine levels can affect fetal development in pregnant individuals with PKU.

Step-by-step explanation:

Phenylketonuria (PKU) is a rare genetic disorder that affects around 1 in every 15,000 births in the United States. It occurs when a person lacks sufficient activity of the enzyme phenylalanine hydroxylase, which is responsible for breaking down phenylalanine into tyrosine. The inability to break down phenylalanine results in toxic levels of this amino acid in the body, leading to damage to the central nervous system and brain.

Individuals with PKU need to closely follow a strict diet that is low in phenylalanine to avoid symptoms and damage. Phenylalanine is found in high concentrations in certain foods such as animal products and starches, as well as in artificial sweeteners like aspartame. Pregnant individuals with PKU are at a high risk of exposing the fetus to excessive phenylalanine, which can affect fetal development and lead to heart defects, intellectual disability, and microcephaly.

When Ayesha's 1-day newborn screening test result for phenylalanine was 3.7 mg/dL (222μmol/L), it indicated elevated phenylalanine levels. Monitoring and managing her phenylalanine intake through diet will be crucial to prevent symptom development and minimize the severity of PKU-related symptoms.

Answer 2

Ayesha's 1-day newborn screening test result for phenylalanine (Phe) was 3.7 mg/dL (222 μmol/L), and she was born weighing 6 lb, 7 oz. A follow-up sample is needed to confirm the initial screening, considering factors such as breastfeeding and the absence of supplemental formula.

Step-by-step explanation:

Newborn screening tests, including phenylalanine (Phe) levels, are crucial for identifying potential metabolic disorders early in an infant's life. Ayesha's initial screening result of 3.7 mg/dL (222 μmol/L) is within the range that may require further investigation. Factors like birth weight (6 lb, 7 oz) and the feeding method (exclusively breastfed with no supplemental formula) are important considerations.

Breast milk naturally contains phenylalanine, and in exclusively breastfed infants, Phe levels can be slightly elevated compared to formula-fed infants. To ensure an accurate assessment, a repeat sample is necessary to confirm the initial screening results and rule out false positives. This second sample will provide a more comprehensive understanding of Ayesha's Phe levels, taking into account any variations that might occur.

In summary, while Ayesha's initial screening result raises awareness, a follow-up sample is crucial to make informed decisions regarding her phenylalanine levels and to ensure an accurate diagnosis, particularly considering the nuances associated with breastfeeding and potential false positives.