Phenylketonuria

Patients suffering from such disease a disease of infants can not effectively make use of food proteins, usually lead to severe mental retardation or death. If early detection, to give birth within three months of special diet or vitamins, then most patients can have normal intellectual development.

Currently known to have the following five different enzymes will cause a lack of metabolism phenylketonuria Machine impaired:

1. Phenylalanine hydroxylation enzyme (PAH)

2. Guanine nucleoside triphosphate cyclohydrolase enzyme hydrolysis (GTPCHI)

3. C dione tetrahydro biopterin synthase (PTPS)

4. Dihydroartemisinin acridine HD reductase (DHPR)

5. Neopterin methanol dehydration amine enzymes (PCD)

Phenylketonuria of symptoms:

1. Clinical symptoms at the beginning of the first few months of birth and will not happen.

2. The general symptoms are:

Skin and hair color , smaller head circumference, vomiting caused by the growth of undesirable, body and urine odor has mycophenolate, this still has eczema, and even twitch circumstances.

3. On the other clinical symptoms:

Mental retardation, growth retardation, vulnerability, and decreased immunity.

Phenylketonuria treatment principles:

1. Control of diet intake of phenylalanine to eat a special formula milk powder

(1) low-phenylalanine formula (such as: Lofenalac), phenylalanine-free milk (such as: phenyl-free)

(2) in accordance with the recommendations of nutritionists, consumption of low-phenylalanine foods

2. The lack of Coenzyme patients, then supplemented by drug therapy (such as: BH4, L-dopa, Folinic acid)

3. Regular assessment of serum concentrations of phenylalanine

4. Regular assessment of growth and development of the situation