苯丙酮尿症Phenylketonuria，PKU.pptVIP

Congenital disorder of amino acid metabolism  Autosomal recessive inheritance Incidence :1/11186 in China Only 50% patients receiving treatment in China Clinical Types(Ⅰ) Classic PKU Clinical Symptoms Appears at 3~6 months Being evident at 1 year Newborn Screening Bacterial inhibition assay method of Guthrie — Smiquantitative determination (Guthrie 细菌生长抑制试验—— 半定量） Phenylalanine dehydrogenase colorimetric method — Quantitative determination （苯丙氨酸脱氢酶比色定量试验——定量） * * PAEDIATRICS of XIANGYA HOSPITAL Cao Lizhi Summary GTP GTP-CH Dihydroneopterin triphosphate 6-PTS 6-Lactoyl tetrahydroplerin B H4 Co I Reduced CoI DHPR B H2 Phenylalanine Tyrosine PAH Tyrosine DOPA Ser 5-HT Pathogenesis 90% PAH deficiency (12q22～12q24) Dietotherapy Clinical Types(Ⅱ) BH4 Deficiency 10%～15% 6-PTS,GTP-CH,DHPR Deficiency N↑B ↓N/B↑( B/B＋N%﹤10%) Severe CNS symptoms Pharmacotherapy Mousy odor (鼠尿气味） Mental Retardation (脑发育障碍） Hypopigmentation (皮肤色素减退脱失） Seizures (癫 痫） Eczema (湿 疹） Diagnosis (Ⅰ) Urinary FeCl3 test (尿三氯化铁试验) Urinary 2,4— binitrobenzene (尿2,4-二硝基苯肼试验) Diagnosis (Ⅱ) Child Screening Confirmed Criteria Diagnosis (Ⅲ) Plasma Phenylalanine Level 1.2mmol/L （20mg/dl） GC-MC’ diagnose of organic acid in blood and urine Analysis of Urinal Pterin(HPLC) PAH Deficiency total pterin neopterin/biopterin N DHPR Deficiency total pterin BH4 ↓ 6-PTS Deficiency neopterin neopterin/biopterin GTP-CH Deficiency total pterin neopterin/biopterin N ↑ ↑ ↑ ↓ Diagnosis (Ⅳ) Enzyme Analysis Peripheral blood、Skin fibroblast cell DNA Analysis Multiplex