Laboratório de Erros Inatos do Metabolismo, Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro, Cidade Universitária, Ilha do Fundão, Centro de Tecnologia, bloco A, 536 C, 21941 900, Rio de Janeiro, Brasil.
J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15.
Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain abnormalities, developmental delay, and great accumulation of fumaric acid in urine. This work presents the first case of fumaric aciduria described in Brazil, which presented with some interesting clinical and biochemical findings such as colpocephaly, hepatic alterations, and marked metabolic acidosis since birth. Common findings were ventriculomegaly, hypotonia, and microcephaly. Biochemically, besides the high urinary fumaric acid excretion, atypical elevation of plasma citrulline, tyrosine and methionine levels were also observed. In order to show all features and variants of fumaric aciduria, literature data of 40 patients was reviewed and compared with the case reported here. Findings in all these patients demonstrate that this disorder does not yet have its phenotype completely defined; it is important that more patients be described.
延胡索酸尿症是一种罕见的代谢疾病，目前已报道了 40 例病例。延胡索酸酶缺乏主要导致脑异常、发育迟缓以及尿中延胡索酸大量积累。本研究报告了巴西首例延胡索酸尿症病例，该病例具有一些有趣的临床和生化发现，如头颅过大、肝异常和出生时即出现明显代谢性酸中毒。常见的发现包括脑室扩大、张力减退和小头畸形。生化方面，除了尿中延胡索酸排泄量高外，还观察到血浆瓜氨酸、酪氨酸和蛋氨酸水平异常升高。为了展示延胡索酸尿症的所有特征和变异，我们回顾了 40 例患者的文献数据，并与本报告的病例进行了比较。所有这些患者的发现表明，该疾病的表型尚未完全确定；描述更多的病例非常重要。
