Increased gamma-hydroxybutyric acid in urine and blood are metabolic hallmarks of succinic semialdehyde dehydrogenase deficiency, a defect of 4-aminobutyric acid metabolism. Here, we examined the hypothesis that succinic semialdehyde dehydrogenase deficiency could be identified via measurement of gamma-hydroxybutyric acid in newborn and post-newborn dried bloodspots. Quantitation of gamma-hydroxybutyric acid using liquid chromatography-tandem mass spectrometry in twelve archival newborn patient dried bloodspots was 360 ± 57 μM (mean, standard error; range 111-767), all values exceeding the previously established cutoff for newborn detection of 78 μΜ established from 2831 dried bloodspots derived from newborns, neonates and children. Gamma-hydroxybutyric acid in post-newborn dried bloodspots (n = 19; ages 0.8-38 years) was 191 ± 65 μM (mean, standard error; range 20-1218), exceeding the aforementioned GHB cutoff for patients approximately 10 years of age or younger. Further, gamma-hydroxybutyric acid in post-newborn dried bloodspots displayed a significant (p < .0001) inverse correlation with age. This preliminary study suggests that succinic semialdehyde dehydrogenase deficiency may be identified in newborn and post-newborn dried bloodspots via quantitation of gamma-hydroxybutyric acid, while forming the platform for more extensive studies in affected and unaffected dried bloodspots.

中文翻译：

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干血斑中的γ-羟基丁酸含量有助于新生儿发现琥珀酸半醛脱氢酶缺乏症。

尿和血液中γ-羟基丁酸增加是琥珀酸半醛脱氢酶缺乏症（4-氨基丁酸代谢缺陷）的代谢特征。在这里，我们检查了这样的假设，即可以通过测量新生儿和新生儿干血斑中的γ-羟基丁酸来鉴定琥珀酸半醛脱氢酶缺乏症。使用液相色谱-串联质谱法在12个档案新生儿干燥血斑中对γ-羟基丁酸的定量为360±57μM（平均值，标准误差；范围111-767），所有值均超过了先前确定的新生儿检测78μM的临界值。建立于从新生儿，新生儿和儿童衍生的2831个干血斑上。新生儿干血斑（n = 19；年龄0.8-38岁）中的γ-羟基丁酸为191±65μM（平均 标准误差 范围在20-1218之间），超过大约10岁以下的患者的上述GHB临界值。此外，新生后的干血斑中的γ-羟基丁酸与年龄呈显着的负相关（p <.0001）。这项初步研究表明，可以通过定量γ-羟基丁酸在新生儿和新生儿干血斑中发现琥珀酸半醛脱氢酶缺乏症，同时为在受影响和未受影响的干血斑中进行更广泛的研究提供了平台。