Category: Phenylketonuria

1. the Phe requirement in infancy is high and the natural diet is needed to supplement the insufficient Phe in the low Phe treatment formula. the Phe requirement for patients…

Doctor: My child’s lab results are back, can you see if there are any problems? This is a scene that a clinician hears and faces countless times every day, which…

Rare diseases, especially in children, can be a distressing affair. The search for the cause of the disease is often particularly lengthy and costly and exhausting. How high is the…

Phenylketonuria is a relatively common autosomal recessive disorder caused by an enzyme defect in the phenylalanine metabolic pathway. It is common in the offspring of consanguineous marriages, and 40% of…

If the ketogenic diet is ineffective for seizure control and cognitive improvement, the ketogenic diet should be gradually reduced from a 4:1 to 3:1 to 2:1 fat/(protein + carbohydrate) ratio…

Treatment of classic D low phenylalanine diet Duration of treatment: It is advocated that the child should be treated at least until pubertal maturity, preferably for life, with appropriate relaxation…

(Disclaimer: This article is for scientific use only, and the information in the following content has been processed to protect patient privacy)Abstract: A child who just turned 1 year old…

Alanine aminotransferase is an important indicator of liver function tests and is an aminotransferase enzyme. Aminotransferases are referred to as aminotransferases and are mainly used in liver function tests as…

1. Which age group of children with PKU are suitable for PKU milk powder and protein powder? Phenylalanine-free milk powder basically contains all kinds of nutrients needed by infants, but…

Phenylketonuria is a common amino acid metabolic disorder caused by an enzyme defect in the phenylalanine metabolic pathway that prevents the conversion of phenylalanine to tyrosine, resulting in the accumulation…