2,4-Dihydroxybutanoic acid 在健康人类尿液中通常不检出, 新生儿的尿液中有极少量发现。在琥珀酸半醛脱氢酶缺乏症患者中，则可观测到该代谢物水平的持续升高。 2,4-Dihydroxybutanoic acid is typically not found in extracts of normal human urine and is present only in trace amounts in newborns, while cases of succinic semialdehyde dehydrogenase deficiency consistently exhibit elevated levels of this metabolite. Various cases of succinic semialdehyde dehydrogenase deficiency have shown consistently increased amounts of this metabolite, while 2,4-dihydroxybutanoic acid is usually absent in normal human urine extracts or in only trace constituents in neonates.