What foods should children with phenylketonuria eat?

Written by Zeng Hai Jiang
Pediatrics
Updated on December 05, 2024
00:00
00:00

Phenylketonuria is a common amino acid metabolic disorder, an autosomal recessive genetic disease, and a type of hereditary metabolic disease that can be treated through dietary control. All natural foods contain certain amounts of phenylalanine. Therefore, once diagnosed, children should stop consuming natural diets and start treatment with a phenylalanine-restricted diet, including low-phenylalanine yogurt. Treatment should continue at least until the age of 12. When the concentration of blood phenylalanine is controlled at an ideal level, gradually add small amounts of natural food, adhering to the principle of low protein and low phenylalanine in the added foods.

Other Voices

doctor image
home-news-image
Written by Zeng Hai Jiang
Pediatrics
44sec home-news-image

Does phenylketonuria definitely cause intellectual disabilities when one grows up?

Phenylketonuria is a common amino acid metabolic disorder that is due to a deficiency of phenylalanine hydroxylase in the phenylalanine metabolic pathway, leading to metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first genetic metabolic disorder that can be controlled and treated through diet. Once diagnosed, natural diet should be discontinued for the patient, and a low-phenylalanine diet should be administered. If phenylketonuria is diagnosed and treated early, intelligence can be normal. However, if not controlled, it can lead to delayed growth and development, especially in terms of intellectual development.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
46sec home-news-image

Can phenylketonuria be prevented?

Phenylketonuria belongs to a recessive hereditary metabolic disease; how can we take preventive measures? First, we must avoid consanguineous marriages. Second, we need to conduct newborn screening to achieve early diagnosis, early detection, and early treatment. Third, for pregnant women with a family history of this disease, it is mandatory to use DNA analysis or methods like amniotic fluid testing for prenatal diagnosis of their fetuses. Prevention is better than cure. By taking preventive measures early, the chances of complications occurring are greatly reduced. If a baby shows symptoms of newborn phenylketonuria, parents should not take it lightly and should actively cooperate with the treatment.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
48sec home-news-image

Phenylketonuria lacks what enzyme?

Phenylketonuria is an autosomal recessive genetic disorder primarily caused by mutations in the phenylalanine hydroxylase gene. This leads to reduced activity of phenylalanine hydroxylase, accumulation of phenylalanine and its metabolites in the body, and the onset of the disease. Phenylketonuria is the most common congenital amino acid metabolism disorder. Clinically, it is mainly characterized by intellectual developmental delays, light skin and hair pigmentation, and a mousey urine odor. The incidence of this disease varies by ethnicity and region. In China, the incidence is approximately 1 in 11,000.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
1min 11sec home-news-image

What can be eaten with phenylketonuria?

Phenylketonuria is primarily due to a deficiency of phenylalanine hydroxylase in the body, which prevents the conversion of phenylalanine to tyrosine. Due to the blockage of the metabolic pathway, secondary metabolic pathways are enhanced, leading to the deamination of phenylalanine and the production of large amounts of phenylpyruvic acid. Through oxidation, by-products such as phenylacetic acid, phenyllactic acid, and para-hydroxyphenylpyruvic acid are formed. The treatment mainly involves the use of low-phenylalanine formula milk. When the concentration in the blood reaches the desired level, natural foods can be gradually added in small amounts. Breast milk is the preferred choice as it contains only one-third of the phenylalanine content of cow's milk. For older infants and children, cow's milk, porridge, noodles, and eggs can be added. The principle for introducing foods should be based on low protein and low phenylalanine content, adjusted according to the phenylalanine concentration in the blood. Both too high and too low levels of phenylalanine can affect growth and development.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
53sec home-news-image

If phenylketonuria is not treated, what will happen?

Phenylketonuria (PKU) is an amino acid metabolic disorder primarily caused by a deficiency in phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to a significant accumulation of phenylalanine, which is then excreted in large quantities in the urine. It is a common genetic metabolic disorder. If not treated, it can lead to developmental delays in children, particularly in intellectual development, with markedly lower IQ than peers, especially noticeable in language development disorders. Additionally, it can also present with neurological and psychiatric symptoms such as agitation, hyperactivity, increased muscle tone, and hyperreflexia. There is also depigmentation of the skin and hair, and the urine may have a mousy odor.