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.
Product introduction:
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. |
检测疾病列表
氨基酸代谢缺陷病21种
| 枫糖尿症 | 苯丙酮尿症 | 酪氨酸血症1型 | 酪氨酸血症Ⅱ型 |
| 酪氨酸血症Ⅲ型 | 瓜氨酸血症Ⅰ 型 | 瓜氨酸血症Ⅱ型 | 精氨酸血症 |
| 四氢生物喋呤缺乏症 | 高苯丙氨酸血症 | 鸟氨酸氨甲酰基转移酶缺乏症 | 氨甲酰磷酸合成酶缺乏症 |
| N-乙酰谷氨酸合成酶缺乏症 | 高鸟氨酸血症-高氨血症-高瓜氨酸血症综合症 | 同型半胱氨酸血症 | 高甲硫氨酸血症 |
| 精氨琥珀酸血症 | 高鸟氨酸血症 | 非酮性高甘氨酸血症 | 组氨酸血症 |
| 高缬氨酸血症 |
有机酸代谢缺陷病12种
3-甲基巴豆酰辅酶 A羧化酶缺乏症 | 2-甲基丁酰基辅酶 A脱氢酶缺乏症 | 丙酸血症 | 异戊酸血症 |
| -甲基戊烯二酸血症 | 甲基丙二酸血症 | 戊二酸血症Ⅰ 型 | 多发性羧化酶缺乏症 |
| 2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症 | 异丁酰基辅酶A脱氢酶缺乏症 | Β-酮硫酸缺乏症 | 3-羟-3-甲基戊二酰辅酶A裂解酶缺乏症 |
脂肪酸氧化缺陷病15种
| 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 |
| 长链-3-羟酰基辅酶A脱氢酶缺乏症 | 丙二酰基辅酶A脱羧酶缺乏症 | 肉碱转运缺乏症 | 乙基丙二酸脑病变 |
| 肉碱/酰基肉碱移位酶缺陷 | 中/短链羟酰基辅酶A脱氢酶缺乏症 | 三功能蛋白缺陷病 | 戊二酸血症Ⅱ型 |
| 极长链酰基辅酶A脱氢酶缺乏症 | 中链-3-酮酰基辅酶A硫解酶缺乏症 | 2,4-二烯酰辅酶A还原酶缺乏症 |
Sample type:
Mass spectrometry: heel blood driedblood
Gene detection: peripheral blood (EDTA tube, not less than 2ml)
intended for
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.