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表现为先天性乳酸酸中毒的α-酮戊二酸脱氢酶缺乏症。

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

作者信息

Bonnefont J P, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray J M, Munnich A

机构信息

INSERM U-12, Département de Pédiatrie Hôpital des Enfants-Malades, Paris, France.

出版信息

J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0.

DOI:10.1016/s0022-3476(05)81199-0
PMID:1640293
Abstract

We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.

摘要

我们报告了三例患有三羧酸循环先天性缺陷（α-酮戊二酸脱氢酶缺乏症）的同胞病例，这三名患儿出生后立即出现肌张力减退、代谢性酸中毒和高乳酸血症。神经功能恶化导致患儿在约30个月大时死亡。我们提出，先天性乳酸酸中毒新生儿血浆中酮体的低摩尔比可作为三羧酸循环功能障碍的一个指标。

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