Can phenylketonuria be cured?

Written by Yan Xin Liang
Pediatrics
Updated on September 19, 2024
00:00
00:00

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.

Other Voices

doctor image
home-news-image
Written by Yan Xin Liang
Pediatrics
1min 19sec home-news-image

Can phenylketonuria be treated?

Can phenylketonuria be treated? Yes, it can be treated, and treatment should begin immediately once diagnosed. The younger the age at which treatment begins, the better the prognosis. Infants are generally treated with low-phenylalanine formula milk. Once the blood phenylalanine concentration drops to an ideal level, natural foods can gradually be added in small amounts, with a preference for adding breast milk, since it contains only one-third the phenylalanine content of cow's milk. Older infants and children can add foods like milk, porridge, noodles, and eggs. Added foods should follow the principle of being low in protein and phenylalanine. The amount and frequency of these foods should be determined based on the blood phenylalanine concentration. Concentrations that are too high or too low can affect the growth and development of the child. As each child's tolerance to phenylalanine concentration differs, it is necessary to regularly measure the blood phenylalanine concentration during dietary treatment and adjust the diet according to the specific situation of the child, avoiding increased phenylalanine levels or deficiency.

doctor image
home-news-image
Written by Yao Li Qin
Pediatrics
1min 4sec home-news-image

Is phenylketonuria often misdiagnosed?

Phenylketonuria belongs to congenital hereditary metabolic disorders and is caused by enzyme deficiencies in the phenylalanine metabolic pathway. Misdiagnosis of phenylketonuria is not common; if the disease develops, meaning that the child has typical clinical manifestations, it is relatively easy to diagnose. However, once a child exhibits the typical clinical manifestations of phenylketonuria such as blood phenylalanine levels, by the time of diagnosis the child may already have varying degrees of neurological damage, meaning the child might already have intellectual disabilities. Therefore, in such cases, we cannot rely solely on clinical symptoms for diagnosis but should instead carry out newborn disease screening promptly after birth. By diagnosing and treating before any clinical symptoms appear, we can prevent the occurrence of neurological complications, allowing the child to grow and develop like a normal child.

doctor image
home-news-image
Written by Hu Qi Feng
Pediatrics
45sec home-news-image

Phenylketonuria Clinical Symptoms

Phenylketonuria may appear normal at birth, but symptoms usually start to appear between three to six months, with the symptoms becoming most evident at one year old. These are often manifestations of the nervous system, with prominent developmental delays in intelligence. The IQ is often lower than normal, and there may be abnormal behaviors, minor epileptic seizures, and, in a few children, increased muscle tone and hyperactive tendon reflexes. Due to insufficient melanin synthesis a few months after birth, affected children’s hair color changes from black to yellow, their skin is fair, and skin eczema is relatively common. Due to the elevated excretion of phenylacetic acid in urine and sweat, there is a distinct mouse-like urine smell.

doctor image
home-news-image
Written by Wu Ben Rong
Pediatrics
52sec home-news-image

Is phenylketonuria related to a baby's face turning dark?

Baby's dark complexion is not directly related to phenylketonuria (PKU). Phenylketonuria is a relatively common amino acid metabolism disorder caused by a deficiency in the enzyme needed for the metabolic pathway of phenylalanine, preventing it from being converted into tyrosine. This leads to the accumulation of phenylalanine and keto acids in the body, which are then excreted in large amounts through urine. Children with phenylketonuria may have lighter hair and skin color within months of birth due to insufficient melanin synthesis. Typically, their skin is very pale; therefore, if a child has darker facial skin, it is not related to phenylketonuria. This condition might be due to genetic factors or prolonged exposure to the sun among other reasons.

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

Does phenylketonuria require a lifetime of special milk consumption?

Phenylketonuria does not require a lifetime of special milk consumption. It is the first genetically inherited metabolic disorder that can be treated through dietary control. Once diagnosed with phenylketonuria, one must stop a natural diet and begin treatment with a low-phenylalanine diet. The low-phenylalanine milk formula should be consumed at least until the age of 12. When the concentration of phenylalanine in the blood is controlled within the ideal range, it is possible to appropriately add a small amount of natural diet, adhering to principles of low protein and low phenylalanine.