Sklirou Evgenia, Lichter-Konecki Uta
Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.
Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.
Pediatr Clin North Am. 2018 Apr;65(2):267-277. doi: 10.1016/j.pcl.2017.11.009.
Phenylketonuria is a defect in phenylalanine metabolism resulting in the excretion of phenylketones and severe intellectual disability. The principle of eliminating the offending amino acid from the diet as a successful treatment strategy was demonstrated. The development of a low methionine diet to treat homocystinuria was established after identifying the transsulfuration pathway resulting in cysteine synthesis. Both conditions are examples of disorders of amino acid metabolism. Lesch-Nyhan syndrome, a rare disorder of purine metabolism resulting in intellectual disability and self-injurious behavior, is a classical inborn error of metabolism. Disorders of creatine biosynthesis are relatively newly described and less known diseases.
苯丙酮尿症是苯丙氨酸代谢缺陷，导致苯酮排泄和严重智力残疾。从饮食中去除有害氨基酸作为一种成功治疗策略的原理得到了证实。在确定导致半胱氨酸合成的转硫途径后，制定了低蛋氨酸饮食来治疗同型胱氨酸尿症。这两种情况都是氨基酸代谢紊乱的例子。莱施-奈恩综合征是一种罕见的嘌呤代谢紊乱，导致智力残疾和自伤行为，是一种典型的先天性代谢缺陷。肌酸生物合成紊乱是相对较新描述且鲜为人知的疾病。
