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 Yan Xin Liang
Pediatrics
1min home-news-image

Can phenylketonuria be cured?

Once phenylketonuria is diagnosed, immediate treatment is necessary; the younger the age at which treatment is started, the better the prognosis. The main approach is to use a low phenylalanine formula milk for treatment. Once the blood phenylalanine concentration has decreased to the desired level, we can gradually begin adding small amounts of natural diet. For small infants, breast milk is preferred since it contains much less phenylalanine than cow's milk. For older infants, additions such as cow's milk, porridge, noodles, and eggs are acceptable, but supplements should still follow the principle of being low in protein and phenylalanine. The amount and frequency of these additions should be determined based on the phenylalanine concentration, as too high or too low levels can affect growth and development. This condition can only be managed by controlling symptoms and maintaining blood phenylalanine levels. Long-term treatment is required; it cannot be cured, only controlled.

doctor image
home-news-image
Written by Hu Qi Feng
Pediatrics
43sec home-news-image

Mechanism of phenylketonuria

Phenylketonuria is characterized by reduced activity of phenylalanine hydroxylase, which fails to convert phenylalanine to tyrosine, causing extremely elevated levels of phenylalanine in the blood, cerebrospinal fluid, and tissues. This leads to the production of large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid via alternative pathways. High concentrations of phenylalanine and its metabolic products can cause brain damage, which manifests as developmental intellectual disabilities, changes in skin and hair pigmentation, and a mousy urine odor, all part of a clinical syndrome.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
39sec home-news-image

Is phenylketonuria characterized only by pale facial skin?

Phenylketonuria is a common amino acid metabolic disorder. It is primarily due to the deficiency of phenylalanine hydroxylase, which prevents the conversion of phenylalanine to tyrosine, leading to a series of clinical symptoms. These can manifest as intellectual disability, neuropsychiatric symptoms, eczema, skin scratching, pigment loss, and a musty odor. The skin whiteness mentioned is not merely facial pallor; it affects the entire skin because the benefits of tyrosine are reduced, leading to decreased melanin synthesis. Consequently, the hair of affected children can also be lighter and tend to be brown.

doctor image
home-news-image
Written by Zeng Hai Jiang
Pediatrics
48sec home-news-image

Can people with phenylketonuria not eat things high in protein?

Phenylketonuria patients should avoid foods high in protein, as phenylketonuria is a common amino acid metabolism disorder caused by a deficiency of phenylalanine hydroxylase in the metabolic pathway of phenylalanine, leading to disordered metabolism of phenylalanine in the liver. Phenylketonuria is a hereditary metabolic disease that can be managed through diet. Natural foods contain certain amounts of phenylalanine. Once diagnosed, the patient should cease consuming natural diets and switch to a phenylalanine-restricted diet. Foods rich in protein have higher amounts of phenylalanine, thus, those with phenylketonuria should not consume foods high in protein.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
1min 3sec home-news-image

Phenylketonuria positive means what?

Phenylketonuria is an autosomal recessive inherited disease and is the most common congenital amino acid metabolism disorder. Generally, if the activity of phenylalanine hydroxylase in the body is reduced, or if there is a deficiency in its coenzyme tetrahydrobiopterin, the concentration of phenylalanine in the blood and tissues will increase, and phenylpyruvic acid, phenylacetic acid, and phenyllactic acid in the urine will also increase. Generally, newborns may not show any special clinical features at first. Often, the first test results may be high due to maternal influence or dietary factors, which can cause these elevated indicators in newborns. If the second test is normal, there usually isn’t a significant problem. A third test can also be performed; if the third test still shows no issues, then phenylketonuria can be ruled out. Generally, if phenylketonuria is diagnosed, it should be treated promptly and properly.