临床医学讲解习题考题苯丙酮尿症
5页1、Phenylketonuria PKU Dr Xiaoping Luo Professor and Chairman Department of Pediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Background The most common inborn errors of amino acid metabolism Characterized by a deficiency in the enzyme phenylalanine hydroxylase PAH Deficiency of PAH leads to accumulation of phenylalanine Phe in the plasma and to excretion of phenylpyruvic acid and phenylacetic acid in the urine Low frequency African Americans 1 50000 Fr
2、equency General 4 10 0000 High frequency Turkey1 2600 Scotland 1 5300 China1 11700 Finland Japan 1 100000 1 125000 higher in northern no gender difference Pathophysiology Pathophysiology Atypical PKU classical coenzyme1BH4dopamineNA phenylalanine PAH The metabolic pathway of phenylalanine GTP GTPCH dihydroneopterin triphosphate PTPS 6 pyruvoyl tetrahydropterin Phenylpyruvic acidadnephrin Reduced coenzyme1 pterin 4a carbinolamine tyrosine DOPA DOPA Quinone q dihydrobiopterinp OH phenylpyruvicindo
3、le quinone homogentisic acidmelanin PAH phenylalanine hydroxylase 1 Autosomal recessive inherited disease Chromosome 12 12q22 12q24 Length 90kb Extron 13 Intron 12 Code 451AA Milestone 1934 F lling discovered PKU 1947 Jervis the metabolic deficiency 1953 Dickel therapy with low phenylalanine milk 1963 Guthrie newborn screening of PKU 1983 Woo clone PKU gene Clinical Features Nerve system Mental retardation Muscle spasm irritability seizures Abnormal EEG Active muscle tendon reflexes Clinical Fea
4、tures Nerve system Appearance Blue eyes Fairer hair and skin Seborrheic skin Lesion microcephaly Initial symptoms may include A musty or mousy odor of the body and urine Movement disorders Slower than normal growth rate Developmental delays in sitting crawling and standing Microcephaly small head size If patients remain untreated they may develop Decreased skin and hair pigmentation due to lack of tyrosine Eczema Heart defects and other heart problems Behavior problems Seizures Profound mental r
5、etardation 1 Laboratory studies Guthrie assay newborn screening Ferric chloride assay not all PKU have a positive test Dinitrophenylhydrazine assay Blood amino acid assay Urine organic acid assay Urine pterin HPLC classification of PKU PAH Gene detection ay be indicated in older indivi deficits in motor or cognitive elination are common Imaging Studies MRI Cranial MRI mduals experiencing function Areas of demy MRS Preliminary indications suggest that brain phenylalanine levels Some controversy s
《临床医学讲解习题考题苯丙酮尿症》由会员大***分享,可在线阅读,更多相关《临床医学讲解习题考题苯丙酮尿症》请在金锄头文库上搜索。
临床医学讲解习题考题【记忆版】2017肖秀荣终极四套-记忆版
临床医学讲解习题考题皮肤性病学
临床医学讲解习题考题二系精神病学与神经病学考题
临床医学讲解习题考题垂体瘤-陈旭
临床医学讲解习题考题皮肤性病学
临床医学讲解习题考题【记忆版】2017肖秀荣终极四套-记忆版
临床医学讲解习题考题STROBE_short_Chinese
临床医学讲解习题考题颅内压增高-陈旭
临床医学讲解习题考题精神与神经病学名解解释
临床医学讲解习题考题心境障碍2014.10
临床医学讲解习题考题喉阻塞1
临床医学讲解习题考题甲状腺功能减退2014.9胡蜀红
临床医学讲解习题考题蒋中挺2017考研政治最后一套卷
临床医学讲解习题考题循证医学-五年制-6-证据的评价-2013
临床医学讲解习题考题STROBE_checklist_v4_case-control
临床医学讲解习题考题循证医学-五年制-4-证据的评价1-2014
临床医学讲解习题考题苯丙酮尿症
临床医学讲解习题考题北医李睿医考冲刺模考试卷
临床医学讲解习题考题Trauma
临床医学讲解习题考题脑器质性精神障碍2015
2022-08-19 11页
2023-06-27 3页
2023-06-12 14页
2023-01-22 2页
2022-09-05 27页
2022-07-28 10页
2022-10-06 2页
2023-08-01 3页
2022-10-01 348页
2023-04-10 12页