Rutledge S L, Snead O C, Kelly D R, Kerr D S, Swann J W, Spink D L, Martin D L
Department of Pediatrics, University of Alabama School of Medicine, Birmingham.
Pediatr Neurol. 1989 Jul-Aug;5(4):249-52. doi: 10.1016/0887-8994(89)90085-4.
Pyruvate carboxylase deficiency results in congenital lactic acidosis. We report the significant finding in a child with infantile spasms controlled with adrenocorticotrophin hormone (ACTH) but who then developed severe lactic acidosis; pyruvate carboxylase deficiency was subsequently diagnosed. Blood lactate, pyruvate, and alanine levels were elevated, as well as cerebrospinal fluid alanine. Plasma alanine concentration was doubled by ACTH therapy. Fibroblasts contained extremely low pyruvate carboxylase activity. The patient died at 12 weeks of age after recurrent episodes of profound acidosis. At autopsy, the brain manifested cystic degeneration and demyelination. Pyruvate carboxylase deficiency is associated with neonatal onset of acidosis, delayed development, seizures, hypotonia, recurrent profound acidosis, and early death. The dramatic rise in plasma alanine content coincident with ACTH therapy suggest that ACTH played a role in precipitating the catastrophic metabolic acidosis.
丙酮酸羧化酶缺乏症会导致先天性乳酸性酸中毒。我们报告了一名患有婴儿痉挛症的儿童的重要发现，该患儿最初用促肾上腺皮质激素（ACTH）控制病情，但随后发展为严重的乳酸性酸中毒；随后诊断出丙酮酸羧化酶缺乏症。血液中的乳酸、丙酮酸和丙氨酸水平升高，脑脊液中的丙氨酸也升高。ACTH治疗使血浆丙氨酸浓度翻倍。成纤维细胞中丙酮酸羧化酶活性极低。该患者在12周龄时因反复出现严重酸中毒而死亡。尸检时，大脑表现出囊性变性和脱髓鞘。丙酮酸羧化酶缺乏症与新生儿期酸中毒、发育迟缓、癫痫发作、肌张力减退、反复严重酸中毒和早期死亡有关。与ACTH治疗同时出现的血浆丙氨酸含量急剧上升表明，ACTH在引发灾难性代谢性酸中毒中起了作用。
