3-HYDROXYISOBUTYRIC ACIDURIA WITH A MILD CLINICAL COURSE
3-HYDROXYISOBUTYRIC ACIDURIA WITH A MILD CLINICAL COURSE
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DOI：
10.1007/bf00711767
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发表时间：
1995-01-01
影响因子：
4.2
通讯作者：
BACHMANN, C
中科院分区：
文献类型：
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作者：
BOULAT, O;BENADOR, N;BACHMANN, C
至少有7名患者被确定为3-羟基异丁酸（3 HiB）排泄增加，这是缬氨酸和嘧啶分解代谢途径的中间产物。临床异质性在报告的少数患者中似乎很常见，从1例无事件的临床病程到与发育不良、张力减退或婴儿痉挛相关的先天性畸形（畸形特征、脑发育不全、小头畸形、指侧畸形）（吉布森et al 1993）。其中2例疑似合并丙二酸、甲基丙二酸和乙基丙二酸半醛脱氢酶缺乏症：1例临床病程平稳（Pollitt et al 1985），另1例发育不良、复发性呕吐和畸形特征（吉布森et al 1993）。我们提出了一个新的病人与3 HiBuria到现在为止，一个温和的临床过程。
At least 7 patients have been identified with increased excretion of 3-hydroxyisobutyric acid (3HiB), an intermediate of the catabolic pathways of valine and of the pyrimidines. Clinical heterogeneity seems to be common among the few patients reported, ranging from uneventful clinical course in one to congenital malformations (dysmorphic features, brain dysgenesis, microcephaly, clinodactyly) associated with failure to thrive, hypotonia or infantile spasms (Gibson et al 1993). Two of these patients with suspected combined malonic, methylmalonic and ethylmalonic semialdehyde dehydrogenase deficiencies have been described: one with an uneventful clinical course (Pollitt et al 1985), the other with failure to thrive, recurrent vomiting and dysmorphic features (Gibson et al 1993). We present a new patient with 3HiBuria with up to now a mild clinical course.