What is pku abbreviation for?

It is the abbreviation for phenylketonuria.

Phenylketonuria is divided into two categories: typical and bh4-deficient.

1. Typical PKU is due to the lack of pah in the liver cells of the affected children, which partially converts phenylalanine to tyrosine, so the concentration of phenylalanine in blood, cerebrospinal fluid, all kinds of tissues and urine is extremely increased, and at the same time, bypass metabolism produces a large amount of phenylpyruvate, phenylacetic acid, phenyllactic acid and parahydroxyphenylacetic acid, which is discharged from the urine.

2. The bh4-deficient type is caused by a deficiency of any of the enzymes gtp-ch, 6-pts, or dhpr. bh4 is a ***identical coenzyme necessary for the hydroxylation of aromatic amino acids such as phenylalanine, tyrosine, and tryptophan.

Bh4 deficiency not only phenylalanine can not be converted to tyrosine, and cause tyrosine can not be converted to dopamine, tryptophan can not be converted to 5-hydroxytryptamine, 5-hydroxytryptophan uniformly for the important neurotransmitters, and its lack of can aggravate the damage to the nervous system, so the clinical symptoms of the bh4-deficient PKU is more severe, and the treatment is not easy. Treatment is also not easy.

Extended information:

Phenylketonuria also has a pediatric type.

Pediatric phenylketonuria is one of the more common autosomal recessive disorders due to enzyme defects in the phenylalanine metabolic pathway. Both parents have the chromosomal defect but are asymptomatic, and children of consanguineous marriages have a high incidence of the disease.

Affected children are normal at birth and develop symptoms with milk intake later, usually at 3 to 6 months of age, with symptoms becoming evident at 1 year of age. The disease has been used as one of the routine newborn screening programs in obstetrics.

The typical clinical manifestations of the disease are varying degrees of mental retardation, and about one-fourth of the children have seizures. Patients have light-colored hair and skin, a ratty odor in urine and sweat, and mental behavioral abnormalities.

Baidu Encyclopedia - Phenylketonuria