复旦大学：《儿科学》课程教学资源（PPT课件讲稿）英文版 Newborn screening enylketonuria

Phenylketonuria-P

Phenylketonuria-PKU

Newborn screening of phenylketonuria in china(1982.5-1985.1 district No screened No of pKu incidence Beijing 45, 609 1/15200 Tianjin, Hebei 30, 396 17,600 Shanhai East China 45288 /45,000 ·East- north China 51,288 1/6,800 Sanxi Sichuan 25.800 total 198320 1/16,500

Newborn screening of phenylketonuria in China (1982.5-1985.1) • district No. screened No. of PKU incidence • Beijing 45,609 3 1/15,200 • Tianjin, Hebei 30,396 4 1/7,600 • Shanhai, East China 45,288 1 1/45,000 • East-north China 51,288 4 1/6,800 • Sanxi,Sichuan 25,800 0 - • total 198,320 12 1/16,500

Pathogenesis and Clinical manifesto

Pathogenesis and Clinical manifestations

phenylalanine yrosine thyroxine symptoms of CMS 酶缺陷 四氢生 氢生 对羟苯丙多巴 物喋呤物嘿呤氨酸 Phenyl pyruvicacid 二氢生物 尿黑酸去甲肾 Meaning目 尿臭 FeC3性喋呤还原酶 上腺素 White ski 乙酰乙酸 and bro Adrenal ha 羟基苯苯乳酸乙酸 乙酸 CO,+HO Major metab Oogenesis

Major metabolism of phenylanine and pathogenesis of PKU phenylalanine thyroxine 对羟苯丙 氨酸 尿黑酸 乙酰乙酸 CO2+H2O 多巴 去甲肾 上腺素 Adrenaline Melanine Phenylpyruvicacid 羟基苯 乙酸 苯乳酸 苯乙酸 二氢生物 喋呤还原酶 Phenylalaninehydroxylase Tyrosine 四氢生 物喋呤 二氢生 物喋呤 酶缺陷 symptoms of CNS 尿臭 FeCl3阳性 White skin and brown hair

Clinical manifestations of PKo whitish skin and brown hair

Clinical manifestations of PKU: whitish skin and brown hair

Clinical manifestations of PKU. whitish skin and brown hair

Clinical manifestations of PKU: whitish skin and brown hair

squamatus eczema

squamatous eczema

Skin lesion smear shows large amount of' Candida albicans

Skin lesion smear shows large amount of Candida albicans

Adjunct examinat

Adjunct examinations

8-month old Pku patient with mild diffuse brain function abnormal on EEG 3=3 多二 Cy=TL

8-month old PKU patient with mild diffuse brain function abnormal on EEG