Dietary treatment of phenylalanine uremia and low phenylalanine.

Introduction: Nearly 80% of rare diseases are genetic.
, with the release of China's first Guidelines for the Diagnosis and Treatment of Rare Diseases on February 27, 2019, the state has paid more attention to and paid more attention to the rare disease groups.
incidence of rare diseases is extremely low, of which 80% are genetic diseases, such as almania, haemophilia, etc., 95% of rare diseases still do not have special drugs.
China's "First Rare Diseases" catalogue, released in May 2018, covers 121 diseases, including 21-hydroxyase deficiency, almania, Alport syndrome, amyotrophic lateral sclerosis, phenylketonuria, etc.
incidence of phenylatonuria in China is 8.5/100000, is a treatable genetic metabolic disease.
today, let's talk about the rare disease phenylalanine uremia and low phenylalanine diet therapy.
of phenylatonuria, what kind of disease is this? Phenylketonuria (phenylketonuria, PKU) is a rare disease with abnormal amino acid metabolism due to metabolic problems of phenylalanine.
the enzyme activity is reduced or lacked due to genetic variation of phenyalanine hydroxylase (PAH), which prevents phenylalanine from being converted to tyrosine, resulting in higher concentrations of phenylalanine (Phe).
Blood Phe increase through the blood-brain barrier, the concentration of Phe in the brain increased at the same time, neurotransmitter dopamine and 5-serotonin synthesis decreased, causing brain lesions such as dysplate or demyelination, resulting in intelligent development disorders in patients.
Phe increases to stimulate transaminase, bypass metabolism increases, produces phenylalanidic acid, benzoacetic acid and phenylaclic acid, and is excreted in large quantities from the urine.
are the symptoms of children with PKU? Children with no clinical symptoms during the neonatal period, 3 to 4 months after birth gradually show: "white" - light skin color; Contains a large amount of benzene lactic acid and the smell of rat urine, intelligent stunting: mainly cognitive development disorders, nervous system performance: microcephaly, seizures (mostly in the form of spastic seizures), etc. , inflammation also often appear vomiting, eczema and so on.
if the newborn does not have PKU screening or screening for no abnormalities, but the above obvious symptoms appear in late feeding, parents should pay enough attention to timely to the medical institutions for testing and diagnosis.
does PKU intervene and treat? Low Phe diet therapy is still the main treatment for PKU.
children with PKU are treated within 2 months of birth, and their intellectual development is close to normal.
PKU patients with a blood Phe concentration greater than 360 μmol/L under normal protein intake should be treated immediately after completing the diagnostic test of identification, the earlier the treatment, the better, and promote lifelong treatment.
hpA may not be treated for the time being, but the blood Phe concentration should be detected regularly, such as the blood Phe concentration continued 2 times, should be given treatment.
the characteristics and precautions of low Phe diet therapy for all ages is still the main treatment method of PKU.
of phenylalanine in children with PKU have individual differences and require individualized treatment.
Classic PKU children need to suspend breast milk or ordinary baby milk powder, give no Phe special milk powder (15% protein), after treatment, blood Ppe concentration significantly decreased or reached normal, gradually add a small amount of natural diet.
but with age, natural dietary temptations, reduced therapeutic compliance, and dietary treatments face challenges.
Newborns and infancy: This stage is dominated by dairy foods, treatment compliance is better, after the suspension of breast milk or ordinary milk powder consumption without added Phe milk powder treatment, the concentration of blood phenylalanine decreased close to normal, can be directed by a doctor or clinical dietitian A small amount of breast milk or ordinary infant formula should be gradually added, and infants over 6 months of age with phenyl ketone urinary disease should be treated with no added Phe milk powder, under the guidance of a doctor or clinical dietitian to add low Phe auxiliary food to meet the needs of infant growth and development.
Early childhood and childhood: after the addition of complementary foods, due to the temptation of natural food, treatment compliance decreased, in the choice of no added Phe milk powder treatment, should avoid the intake of high phenylalanine natural foods (such as fish, meat, eggs, dairy products, etc.), diet nutrition should be reasonable;
Adolescents and adulthood: compliance with this stage of treatment will be further reduced, if the interruption of treatment or poor control of blood phenylalanine concentration, will still affect the central nervous system, resulting in a series of mental, behavioral abnormalities, adhere to the treatment at this stage is particularly important.
PKU female patients during pregnancy: PKU female patients need prenatal genetic counseling, it is recommended that PKU women strictly implement the low Phe diet 6 months before pregnancy to the entire pregnancy period, PKU women are advised to supplement multivitamins and DHA200mg daily during pregnancy, continue to eat low Phe diet after child-rearing, and encourage breastfeeding.
TIPS1, phenylalanine is one of the 8 amino acids necessary for the human body, children with no phenylalanine formula food feeding, must regularly monitor blood Phe, such as drowsiness, anorexia, diarrhea, Rash, anemia and other symptoms, should be timely medical treatment, to avoid the occurrence of phenylalanine deficiency;
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