Ramírez Flavia, Mato Ivana, Barboza Andrés, Cejas Bestard Natalia
Nefrología Pediátrica, Hospital Provincial Neuquén Dr. Eduardo Castro Rendón, Neuquén, Argentina.
Neonatología, Hospital Provincial Neuquén Dr. Eduardo Castro Rendón, Neuquén, Argentina.
Arch Argent Pediatr. 2020 Apr;118(2):e178-e182. doi: 10.5546/aap.2020.e178.
Maple syrup disease is an autosomal recessive entity caused by a congenital error in the metabolism of three essential branchedchain amino acids: valine, leucine and isoleucine. The neonatal form of this disease is expressed by a severe and progressive neurological compromise, associated with a peculiar smell of urine, a consequence of the elimination of the excess of these amino acids. This smell of burnt sugar mimics the molasses obtained from maples, which gives its name to this disease. The best method to eliminate these toxins is hemodiafiltration, but in centers where this practice is not possible, peritoneal dialysis is an alternative. We present a newborn with leukinosis with severe central nervous system involvement in whom peritoneal dialysis was useful to overcome metabolic decompensation.
枫糖浆病是一种常染色体隐性疾病,由三种必需支链氨基酸(缬氨酸、亮氨酸和异亮氨酸)代谢的先天性缺陷引起。这种疾病的新生儿形式表现为严重且进行性的神经功能损害,并伴有特殊的尿味,这是由于这些氨基酸过量排出所致。这种焦糖味类似于从枫树上提取的糖蜜味,该病因此得名。清除这些毒素的最佳方法是血液透析滤过,但在无法进行这种操作的中心,腹膜透析是一种替代方法。我们报告了一名患有枫糖浆病且严重累及中枢神经系统的新生儿,腹膜透析对其克服代谢失代偿起到了作用。