Phenylketonuria (PKU) is a commo↕σ≠®n amino acid metabolic disease. It $&is due to an enzyme defect in the phenylalanin"✔δεe (PA) metabolic pathway, which prevents ph>÷ πenylalanine from being converted♥₹≠ into tyrosine, resulting i≠≤n phenylalanine and Its keto₽$ acids accumulate and are excreted in≥© large amounts from urine∞&. The disease is relatively common in inheri¶≤γ¥ted amino acid metaboli™≈>sm defects, and its inheritance is autosomal re§φ©cessive. The clinical manifestations aπσre uneven, and the main clinical f↕ε÷eatures are mental retardation, ≤ neuropsychiatric symptoms, eczema, skin scratche♥ s and depigmentation, rat smell,' ♥≤ and abnormal EEG. If e™§λarly diagnosis and early tr♠±₽eatment can be obtained, the abo♠÷βve clinical manifestations can be p ₩revented, and mental ¶←retardation and abnorma 'l EEG can also be recovered.
This product uses PCR amplificationε✔↓ and DNA reverse dot hybridization (PCR-R÷£×★DB) technology to detect 9 common m≠δ©σutation types in Chinese populatio≤≥n (R111X, R176X, EX6-96A> G, R241C, R243Q, Ωφ☆R252Q, Y356X, V399V , R413ε&♥∞P), suitable for newborn ♣<↓∞PKU screening and pre-pregnancy health checkλ.
1. Growth and retardation
In addition to the gr₩≈$↕owth and development alsteria of the body, the ™'✘main manifestation satage is mental retardationγ≤. Performance in iq lower than the same a£≠¥€ge normal children, afγ×ter 4 to 9 months of life can appeaβr. Heavy-duty people with IQs below 5≥♣σ₩0are particularly pronounced for spe↕ech development disorders, which suggesβ✘™t brain development disorders.
2、Neuropsychiatric perf'∑εormance
Due to brain atrophy and cerebellum↔"" malformation, recurrent seizures, but with age aφ✔$§nd reduce. The muscle tone☆® increases and the refle↔ βxes advance. There is often excitement, h↑→βyperactivity, and abnormal behavior.
3、Skin hair performance
The skin is often dry and prone to ecze♦≠∑₽ma and skin scratches. Because tyrosine enzy✘ me is suppressed, so that melanin synthΩεesis is reduced, so the child's hair is light♦¥± and brown.
4、Others
1. Newborn screening, can achieve early dete∑✘₹$ction, early detection, early prevent×φion, early intervention, improve the intellige♠≈nce of children;
2. Distinguish between the important gen€≥etic characteristics of pure hejukuan∑↓d hemosome and heterogeneous children, which is ₩ helpful to clinical treatment and family gen∏±etic consultation;
3. Testing newlyweds to provide genetic predictio≤≈←×n for the genetic status off'✘∑uture generations, providing guiβ♠£dance for eugenics and eugenicsφσ∑, preventing and "↔reducing the emergence of low-mentally ★γill people;
4. Prenatal diagnostic screening, providing ac✘¥'curate programs for prevention of mental inj©λury for the sick fetu↕§s；
5. The prevention of intel¥>lectual injury for sick fetuses.
Pre-marital inspection and risk asse✘€≤®ssment
Pre-pregnancy and prenatal diagnosis s™ γ"creening
High-risk groups, newborn screening
Health carrier screening
Test specimen: anticoagulant whol↑αe blood or genomic DNA
Technical principle:PCR - reverse point h₩∞ybridization
Packing size: 25 tests / kit
Class: In vitro diagnostic reagents
Suitable instruments:÷ § common gene amplification i₩₩₩nstrument, molecular hybridizer
Date:2020-03-26
Date:2020-03-30
Date:2020-03-17
Date:2020-03-11
Date:2020-03-03
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