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maternal pku

After 72 hours of nursing, newborns are given maternal pku heel blood, which is what we call neonatal screening. The two most basic diseases are screened, hypothyroidism (TSH) and phenylketonuria (PKU). If the newborn is positive, blood should be drawn for reexamination.

What is phenylketonuria?

Some infants lack some metabolic proteases due to genetic factors. If the baby's liver lacks an enzyme for the normal metabolism of phenylpropanoid amino acids, phenylpropanoid amino acids and their metabolites will accumulate in the body. Once the concentration of these substances in the body is too high, it will cause brain atrophy, mental retardation and lifelong disability.

What is the performance of children with phenylketonuria syndrome?

1. The skin is usually dry and prone to eczema and skin scratches.

2. Light hair - reduces melanin synthesis by inhibiting tyrosinase.

3. Smell of sweat or urine.

How to feed healthy newborns with phenylketonuria?

How to feed newborns with phenylketonuria (PKU)?

At this time, breast milk is the best food for the baby, but the problem is that once the mother knows that the baby has this disease, the mental pressure will inevitably be too high, so breast milk will be reduced rapidly.

If there is a serious shortage of breast milk, we can choose to add low phenylalanine milk powder.

What is the golden principle of phenylketonuria prevention?

Phenylketonuria may be due to genetic factors, but the earlier we find and treat this systemic disease, the better the effect will be. Mother's focus should be on students to understand the importance and necessity of heel blood. Pay attention to heel blood collection and query relevant information in time.


Can mild PKU occur?

Summary. A rare variety of phenylketouria (PKU), an inborn mistake in amino acid metabolism, known as mild phenylketonuria is characterized by mild to severe PKU symptoms. Mild PKU is defined as having blood phenylalanine values between 600 and 1,200 micromol/L.

How can someone acquire PKU?

PKU is passed on from one's parents. Due to the recessive nature of the illness, both parents must carry a mutant form of the PAH gene for their kid to acquire PKU. A child will also have PKU if both parents have it.

What harm does PKU do?

Irreversible brain damage and severe intellectual incapacity starting in the first few months of infancy are possible consequences of untreated PKU. issues with the nervous system, including seizures and tremors. behavioral, emotional, and social issues in adults and older children.

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