Do adults with phenylketonuria need to eat special food?

Written by Zeng Hai Jiang
Pediatrics
Updated on December 10, 2024
00:00
00:00

Phenylketonuria may not necessarily require a special diet in adulthood. It is the first genetic metabolic disorder that can be treated through dietary control. Natural foods all contain a certain amount of phenylalanine, so once children with phenylketonuria are diagnosed, they should stop their natural diet and instead be given a low-phenylalanine diet. Low-phenylalanine formula treatment should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, a gradual addition of natural foods can be made. Larger infants and children can add foods such as milk, porridge, noodles, and eggs. However, these added foods should still primarily be low in protein and low in phenylalanine.

Other Voices

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
50sec home-news-image

Phenylketonuria smells like mouse urine.

Phenylketonuria is a common amino acid metabolic disorder primarily caused by a deficiency of phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to the accumulation of phenylalanine and ketone bodies, which are then excreted in large amounts in the urine. This disease is relatively common among genetic amino acid metabolic disorders and is inherited as an autosomal recessive trait. Additionally, due to the lack of phenylalanine hydroxylase, phenylalanine is metabolized through another pathway, resulting in increased production of phenyllactic acid and phenylacetic acid, which are excreted through sweat and urine, giving off a mouse-like urine odor.

doctor image
home-news-image
Written by Zeng Hai Jiang
Pediatrics
1min 1sec home-news-image

Does phenylketonuria require chromosome testing?

Phenylketonuria is usually screened during the neonatal period through routine blood testing, where the level of phenylalanine in the blood is measured to screen each newborn. This enables early diagnosis and treatment, hence reducing the occurrence of intellectual disabilities. Phenylketonuria can also be screened prenatally before the birth of the newborn. It is an autosomal recessive genetic disorder, closely related to chromosomal abnormalities. Therefore, prenatal screening can be conducted by amniocentesis between the 16th to 20th weeks of pregnancy. Chromosomal abnormalities detected through the amniocentesis indicate that the fetus carries the pathogenic gene, meaning the child will be born with phenylketonuria. If both parents carry related genes, it is crucial to undergo prenatal screening and chromosomal analysis to eliminate the risk of the fetus developing the condition.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
1min 34sec home-news-image

The causes of phenylketonuria

Phenylketonuria is a common autosomal recessive genetic disorder, the most frequent primary clinical manifestation among congenital amino acid metabolic disorders. It is characterized by intellectual disability, pale skin and hair pigmentation, and a mouse urine-like odor. The main cause is that phenylalanine is an essential amino acid for the human body. The phenylalanine ingested is partly used for protein synthesis and partly converted to tyrosine by the action of phenylalanine hydroxylase, which is necessary for the synthesis of substances like adrenaline, melanin, and thyroxine. The disease is mainly due to a deficiency of phenylalanine hydroxylase, which inhibits the conversion of phenylalanine to tyrosine, resulting in increased concentrations of phenylalanine in the blood, cerebrospinal fluid, and various tissues. At the same time, due to the predominance of the main pathway, the enhancement of the secondary metabolic pathway leads to the deamination of phenylalanine by transaminase, producing a large amount of phenylpyruvic acid, which through oxidation produces a large amount of phenylacetic acid, phenyllactic acid, and p-hydroxyphenylpyruvic acid. These metabolic by-products are excreted in large quantities in the urine, and the high concentrations of phenylalanine and its by-products accumulate extensively in brain tissue, thereby causing damage to brain cells.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
1min 21sec home-news-image

The pathogenesis of phenylketonuria

Phenylketonuria is an autosomal recessive genetic disorder. Phenylalanine, which is an essential amino acid required by the human body, is partly used for protein synthesis after ingestion and partly converted into tyrosine via the action of phenylalanine hydroxylase, which is necessary for the synthesis of substances such as adrenaline, melanin, and thyroxine. Phenylketonuria is mainly caused by a deficiency of phenylalanine hydroxylase, which prevents the conversion of phenylalanine to tyrosine. This leads to increased levels of phenylalanine in the blood, cerebrospinal fluid, and various tissues. Additionally, as the primary metabolic pathway is blocked, secondary metabolic pathways are enhanced. Under the action of transaminases, phenylalanine undergoes deamination to produce large quantities of phenylpyruvic acid, which is further metabolized to produce phenylacetic acid, phenyllactic acid, and p-hydroxyphenylpyruvic acid, among other byproduct metabolites. These are excreted in large amounts in the urine. The high concentration of phenylalanine and its byproduct metabolites accumulates in brain tissue, leading to damage to brain cells and resulting in a range of clinical symptoms.

doctor image
home-news-image
Written by Zeng Hai Jiang
Pediatrics
52sec home-news-image

Do adults with phenylketonuria need to eat special food?

Phenylketonuria may not necessarily require a special diet in adulthood. It is the first genetic metabolic disorder that can be treated through dietary control. Natural foods all contain a certain amount of phenylalanine, so once children with phenylketonuria are diagnosed, they should stop their natural diet and instead be given a low-phenylalanine diet. Low-phenylalanine formula treatment should continue at least until the age of 12. When the concentration of phenylalanine in the blood is controlled at an ideal level, a gradual addition of natural foods can be made. Larger infants and children can add foods such as milk, porridge, noodles, and eggs. However, these added foods should still primarily be low in protein and low in phenylalanine.