BACKGROUND Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrate. Failure to generate ketones in such circumstances leads to compromised energy delivery, critical end-organ dysfunction and potentially death. There are a range of inborn errors of metabolism (IEM) affecting ketone body production that can present in this way, including disorders of carnitine transport into the mitochondrion, mitochondrial fatty acid oxidation deficiencies (MFAOD) and ketone body synthesis. In situations of acute energy deficit, management of IEM typically entails circumventing the enzyme deficiency with replenishment of energy requirements. Due to profound multi-organ failure it is often difficult to provide optimal enteral therapy in such situations and rescue with sodium DL-3-hydroxybutyrate (S DL-3-OHB) has been attempted in these conditions as documented in this paper. RESULTS We present 3 cases of metabolic decompensation, one with carnitine-acyl-carnitine translocase deficiency (CACTD) another with 3-hydroxyl, 3-methyl, glutaryl CoA lyase deficiency (HMGCLD) and a third with carnitine palmitoyl transferase II deficiency (CPT2D). All of these disorders are frequently associated with death in circumstance where catastrophic acute metabolic deterioration occurs. Intensive therapy with adjunctive S DL-3OHB led to rapid and sustained recovery in all. Alternative therapies are scarce in these situations. CONCLUSION S DL-3-OHB has been utilised in multiple acyl co A dehydrogenase deficiency (MADD) in cases with acute neurological and cardiac compromise with long-term data awaiting publication. The use of S DL-3-OHB is novel in non-MADD fat oxidation disorders and contribute to the argument for more widespread use.

中文翻译：

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DL-3-羟丁酸钠在遗传性酮体合成失调患者的严重急性神经代谢损害中的应用。

背景技术酮体在各种生理环境中形成了用于终末器官的重要能量源。在不同的时间，尤其是心脏，大脑和骨骼肌可以使用酮作为主要底物。在这种情况下不能产生酮会导致能量输送受损，严重的终末器官功能障碍和潜在的死亡。可以通过这种方式出现一系列影响酮体产生的先天性代谢错误（IEM），包括肉碱向线粒体运输的障碍，线粒体脂肪酸氧化缺陷（MFAOD）和酮体合成。在能量严重不足的情况下，IEM的管理通常需要补充能量需求来规避酶缺乏症。由于严重的多器官衰竭，在这种情况下通常难以提供最佳的肠内治疗，并且如本文所述，已尝试在这些情况下使用DL-3-羟基丁酸钠（S DL-3-OHB）进行抢救。结果我们介绍了3例代谢失代偿病例，其中1例伴有肉碱-酰基-肉碱转位酶缺乏症（CACTD），另一例伴有3-羟基，3-甲基，戊二酰辅酶A裂解酶缺乏症（HMGCLD），第三例伴有肉碱棕榈酰转移酶II缺乏症（CPT2D）。 。在发生灾难性的急性新陈代谢恶化的情况下，所有这些疾病通常与死亡有关。辅助S DL-3OHB的强化治疗可导致所有人快速而持续的康复。在这些情况下，替代疗法很少。结论S DL-3-OHB已用于急性神经系统和心脏功能不全的病例中的多种酰基辅酶A脱氢酶缺乏症（MADD），需要长期数据等待发表。S DL-3-OHB在非MADD脂肪氧化性疾病中是新颖的，并为更广泛的使用提供了依据。