Inherited metabolic disease is a deficiency in metabolic function of a class of genetic diseases and for single gene disorders, including macromolecules metabolic diseases; including lysosomal storage disorders (more than 30 kinds of disease), mitochondrial diseases and so on, small molecule metabolic diseases: amino sugar, organic acid, fatty acid, and so on. Genetic metabolic disease part of the cause of genetic genetic causes, there is also a part of the acquired genetic mutations caused by the onset of the period is not just a newborn, covering the whole age stage.
Yinfeng biological metabolic disease gene detecting covers defects in amino acid metabolism, organic acid metabolic defects, defects of fatty acid oxidation, 48 kinds of inherited metabolic diseases, in mass screening positive samples were related to gene sequencing auxiliary clinical diagnosis.
|Common inherited metabolic diseases||Clinical symptom|
|Benzene acetone urine disease (PKU)||Phenylketonuria is amino acid metabolic disease is the most common type, global incidence rate of about 1.5, classic PKU cases birth showed normal, 1 ~ 6 months after the baby gradually appear lower intelligence quotient (IQ), and the emergence of irritability, vomiting and other symptoms.|
|Congenital hypothyroidism (CH)|
Is a common childhood mentally retarded disease, early manifestations, once symptoms appear, is irreversible, also known as cretinism, the disease can lead to short stature, mental retardation, medicine is generally believed that if it is found within 2 months, timely treatment, lifelong medication, basically normal intelligence. More than 10 months found, treatment, IQ can only reach the normal 80%, more than 2 years old found, mental retardation is not reversible.
|肉毒碱棕榈酰基转移酶缺乏症Ⅰ 型||肉毒碱棕榈酰基转移酶缺乏症Ⅱ 型||短链酰基辅酶A脱氢酶缺乏症||中链酰基辅酶A脱氢酶缺乏症|
Mass spectrometry: heel blood driedblood
Gene detection: peripheral blood (EDTA tube, not less than 2ml)
1 either the parents or one party is too old;
2 pregnant women have had a history of abortion;
3 once had a child suffering from such diseases;
4 newborn infants with feeding difficulties;
5 neonatal jaundice is always not back.