Clinical symptoms of phenylketonuria

Written by Yan Xin Liang
Pediatrics
Updated on September 08, 2024
00:00
00:00

The clinical symptoms of phenylketonuria generally include normal appearance at birth, with symptoms usually appearing between three to six months, and becoming more pronounced by the age of one. The most noticeable initial symptoms involve the nervous system; delayed intellectual development is prominent, with intelligence often below normal, along with behavioral abnormalities such as hyperactivity, depression, restlessness, and withdrawal. There could be minor epileptic seizures, and in some cases, increased muscle tone or exaggerated tendon reflexes. Regarding the skin, several months after birth, due to insufficient melanin synthesis, the child’s hair changes from black to yellow, the skin appears pale, and eczema is also relatively common. Additionally, the urine and sweat contain higher levels of phenylacetic acid, which can result in a distinctive mouse-like urine odor.

Other Voices

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.

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
59sec home-news-image

What is the normal value for phenylketonuria?

Phenylketonuria is a common autosomal recessive genetic disorder and the most common congenital amino acid metabolism disorder. It primarily manifests as intellectual disability, light skin and hair pigmentation, and a mousey urine odor. Newborn screening includes routine screening for phenylketonuria as it is a treatable hereditary metabolic disorder, emphasizing the importance of early diagnosis and treatment. Nowadays, newborn screening systems are widely implemented. Generally, this involves collecting a blood sample through a heel prick, dropping the blood on specialized filter paper, and then air drying before sending it to a screening laboratory to measure the phenylalanine concentration. Typically, a normal concentration should be less than 120 micromoles per liter. If the phenylalanine concentration exceeds 1200 micromoles per liter, it can be diagnosed as classical phenylketonuria.

doctor image
home-news-image
Written by Hu Qi Feng
Pediatrics
34sec home-news-image

How is phenylketonuria diagnosed?

Phenylketonuria screening is routinely conducted in China for all newborns. This involves pricking the heel to collect peripheral blood, which is then dropped on specialized filter paper and dried. The samples are sent to a screening laboratory for the measurement of phenylalanine concentration. If the concentration exceeds the threshold, further testing for phenylalanine is conducted. Normally, the concentration should be less than 120 micromoles per liter. Additionally, an analysis of the urinary purine profile can be performed.

doctor image
home-news-image
Written by Zeng Hai Jiang
Pediatrics
40sec home-news-image

Can phenylketonuria be detected before a newborn is born?

Phenylketonuria can be screened prenatally before the birth of a newborn. The procedure involves genetic screening using amniotic fluid drawn through amniocentesis between the 16th and 20th week of pregnancy. Phenylketonuria is an autosomal recessive hereditary disease, greatly associated with chromosomal abnormalities. If chromosomal abnormalities are detected through amniocentesis, indicating the presence of pathogenic genes, it confirms that the fetus will be born with phenylketonuria. If both parents carry the relevant genes, prenatal screening is still necessary to rule out the risk of the disease in the fetus.

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

Can people with phenylketonuria eat meat?

Children with phenylketonuria should not eat meat and should try to eat as little as possible. Phenylketonuria is caused by a defect in the phenylalanine hydroxylase enzyme in the phenylalanine metabolic pathway, which results in a metabolic disorder of phenylalanine in the liver. Phenylketonuria is the first hereditary metabolic disease that can be treated by dietary control. All natural foods contain a certain amount of phenylalanine. Once diagnosed, children should stop consuming a natural diet and be given a low-phenylalanine diet for treatment. Meat is rich in protein and also contains a high amount of phenylalanine, thus the intake of meat must be restricted or minimized.