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Detection of newborn inherited metabolic disorders

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 diseasesClinical 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.


檢測疾病列表


氨基酸代謝缺陷病21種

楓糖尿癥苯丙酮尿癥酪氨酸血癥1型酪氨酸血癥Ⅱ型
酪氨酸血癥Ⅲ型瓜氨酸血癥Ⅰ 型瓜氨酸血癥Ⅱ型

精氨酸血癥

四氫生物喋呤缺乏癥高苯丙氨酸血癥鳥氨酸氨甲?；D(zhuǎn)移酶缺乏癥氨甲酰磷酸合成酶缺乏癥
N-乙酰谷氨酸合成酶缺乏癥高鳥氨酸血癥-高氨血癥-高瓜氨酸血癥綜合癥同型半胱氨酸血癥高甲硫氨酸血癥
精氨琥珀酸血癥高鳥氨酸血癥非酮性高甘氨酸血癥組氨酸血癥
高纈氨酸血癥



有機酸代謝缺陷病12種

3-甲基巴豆酰輔酶

A羧化酶缺乏癥

2-甲基丁?；o酶

A脫氫酶缺乏癥

丙酸血癥異戊酸血癥
-甲基戊烯二酸血癥甲基丙二酸血癥戊二酸血癥Ⅰ 型多發(fā)性羧化酶缺乏癥
2-甲基-3-羥丁酰輔酶A脫氫酶缺乏癥異丁?；o酶A脫氫酶缺乏癥Β-酮硫酸缺乏癥3-羥-3-甲基戊二酰輔酶A裂解酶缺乏癥


脂肪酸氧化缺陷病15種

肉毒堿棕櫚酰基轉(zhuǎn)移酶缺乏癥Ⅰ 型肉毒堿棕櫚?；D(zhuǎn)移酶缺乏癥Ⅱ 型短鏈?；o酶A脫氫酶缺乏癥中鏈?；o酶A脫氫酶缺乏癥
長鏈-3-羥?；o酶A脫氫酶缺乏癥丙二酰基輔酶A脫羧酶缺乏癥肉堿轉(zhuǎn)運缺乏癥乙基丙二酸腦病變
肉堿/?；鈮A移位酶缺陷中/短鏈羥酰基輔酶A脫氫酶缺乏癥

三功能蛋白缺陷病

戊二酸血癥Ⅱ型
極長鏈?；o酶A脫氫酶缺乏癥中鏈-3-酮?；o酶A硫解酶缺乏癥2,4-二烯酰輔酶A還原酶缺乏癥


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.