Gibson K M, Bennett M J, Nyhan W L, Mize C E
Institute for Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.
J Inherit Metab Dis. 1996;19(6):739-42. doi: 10.1007/BF01799165.
We report a 21-month-old female patient whose urine organic acid profile suggested a biotin utilization abnormality consistent with multiple carboxylase deficiency. For most previously reported patients, holocarboxylase synthetase deficiency has correlated with the early-onset variant of multiple carboxylase deficiency; conversely, biotinidase deficiency has been characteristic of the late-onset form. In vitro enzyme studies revealed that our patient suffered from holocarboxylase synthetase deficiency. We suggest that holocarboxylase synthetase deficiency should be considered in the differential diagnosis of older patients in whom there is suspicion of a defect in biotin metabolism.
我们报告了一名21个月大的女性患者，其尿有机酸谱显示存在与多种羧化酶缺乏症相符的生物素利用异常。对于大多数先前报道的患者，全羧化酶合成酶缺乏与多种羧化酶缺乏症的早发型变体相关；相反，生物素酶缺乏是晚发型的特征。体外酶研究表明，我们的患者患有全羧化酶合成酶缺乏症。我们建议，对于怀疑有生物素代谢缺陷的老年患者，在鉴别诊断时应考虑全羧化酶合成酶缺乏症。
