Coude F X, Ogier H, Charpentier C, Cathelineau L, Grimber G, Parvy P, Saudubray J M, Frezal J
Arch Fr Pediatr. 1981 Dec;38 Suppl 1:829-35.
Lysinuric protein intolerance is an autosomal recessive disease, due to a defect in intestinal, renal and hepatic dibasic amino acid transport. Two new cases in the same family are reported. The disease appears progressively during the first months of life with failure to thrive, anorexia, vomiting, diarrhea, hepatosplenomegaly, muscular weakness, osteoporosis, anemia, leukothrombocytopenia, hyperammonemia and orotic aciduria after a high-protein intake. Hyperdibasicamino-aciduria was associated with subnormal plasma concentrations of the same aminoacids. Oral l-arginine, l-ornithine, l-lysine, and lysyl-glycine loads confirmed the diagnosis. The supplementation of the diet with l-citrulline resulted in normal levels of blood ammonia. However, hepatosplenomegaly, muscular weakness, osteoporosis remained unchanged and growth was not improved. These may be due to lysine deficiency.
赖氨酸尿性蛋白不耐受症是一种常染色体隐性疾病，由肠道、肾脏和肝脏二碱基氨基酸转运缺陷引起。本文报道了同一家庭中的两例新病例。该病在出生后的头几个月逐渐显现，表现为发育不良、厌食、呕吐、腹泻、肝脾肿大、肌肉无力、骨质疏松、贫血、白细胞血小板减少、高蛋白摄入后出现高氨血症和乳清酸尿症。高双碱基氨基酸尿症与相同氨基酸的血浆浓度低于正常水平有关。口服L-精氨酸、L-鸟氨酸、L-赖氨酸和赖氨酰甘氨酸负荷试验确诊了该病。饮食中补充L-瓜氨酸可使血氨水平恢复正常。然而，肝脾肿大、肌肉无力、骨质疏松症状未改善，生长也未得到促进。这些可能是由于赖氨酸缺乏所致。
