Merrick Joav, Aspler Shoshana, Schwarz Gerard
National Institute of Child Health and Human Development, Division of Community Health, Department of Family Medicine, Ben Gurion University, Beer-Sheva, Israel.
Int J Adolesc Med Health. 2003 Apr-Jun;15(2):165-8. doi: 10.1515/ijamh.2003.15.2.165.
The aim of this brief report is to stimulate a debate and to advocate life-long treatment with phenylalanine restricted diet to persons with phenylketonuria. We present a case of an adolescent male who today is a 65 year old with moderate mental retardation. He was previously observed as having severe challenging and self-injurious behaviour, sleeping disorder, hyperactivity, and masturbation. In the last year before reassessment he displayed loss of weight, muscle weakness resulting in wheelchair placement, upper respiratory infections, and fungal skin infections. After reassessment in 1998 the patient was started on treatment with a phenylalanine-restricted diet supplemented with vitamin B12, iron, and folic acid. At follow-up one year later the patient had regained his weight and was walking around freely. The challenging and self-injurious behaviour, and the masturbation, had ceased, and he was participating in social activities which he had previously not been able to participate in. At follow-up four years later he was still at this level of accomplishment. In general, this patient's quality of life had increased. We therefore recommend life-long treatment with phenylalanine restricted diet for persons with previously treated, and also for those with untreated, phenylketonuria.
本简短报告的目的是引发一场辩论，并倡导对苯丙酮尿症患者采用限制苯丙氨酸饮食的终身治疗。我们报告一例青少年男性病例，该患者如今65岁，有中度智力障碍。他曾被观察到有严重的挑衅和自我伤害行为、睡眠障碍、多动及手淫。在重新评估前的最后一年，他出现体重减轻、肌肉无力以致需借助轮椅、上呼吸道感染和皮肤真菌感染。1998年重新评估后，患者开始接受限制苯丙氨酸饮食治疗，并补充维生素B12、铁和叶酸。一年后的随访中，患者体重恢复，能自由行走。挑衅和自我伤害行为以及手淫都已停止，他开始参与此前无法参与的社交活动。四年后的随访中，他仍保持这一状态。总体而言，该患者的生活质量有所提高。因此，我们建议对既往接受过治疗以及未接受过治疗的苯丙酮尿症患者采用限制苯丙氨酸饮食的终身治疗。
