de Parscau L, Vianey-Liaud C, Hermier M, Divry P, Guibaud P
L'Unité d'Etudes des Maladies Métaboliques, Hôpital Debrousse, Lyon.
Arch Fr Pediatr. 1988 Dec;45(10):809-12.
A new case of lysinuric protein intolerance is described in a 14 year-old Maghrebian child who presented with growth failure, vertebral osteoporosis, aversion to proteins and digital hippocratism, rarely described in this disease. Orotic aciduria was studied after a protein load with and without citrulline supplement and during the course of a 11 month-treatment. There was a clear relationship between orotic aciduria, protein intake and citrulline supplementation. Orotic aciduria appears to be very useful to adjust the treatment.
本文描述了一名14岁马格里布儿童的赖氨酸尿性蛋白不耐受新病例,该患儿出现生长发育迟缓、椎体骨质疏松、厌恶蛋白质和杵状指,这些症状在该疾病中很少见。在摄入蛋白质且补充或不补充瓜氨酸的情况下以及在11个月的治疗过程中,对乳清酸尿症进行了研究。乳清酸尿症、蛋白质摄入量和瓜氨酸补充之间存在明显关联。乳清酸尿症似乎对调整治疗非常有用。