Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
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DOI：
10.1007/s10545-011-9287-7
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发表时间：
2011-06-01
影响因子：
4.2
通讯作者：
Vilarinho, Laura
中科院分区：
文献类型：
--
作者：
Martins, Esmeralda;Luis Cardoso, M.;Vilarinho, Laura
短链3-羟酰基-CoA脱氢酶（HADH，SCHAD）缺乏症（OMIM #231530）代表了最近描述的线粒体脂肪酸β-氧化障碍，全球范围内描述的病例不到10例。这种代谢性疾病的主要临床表现与其他脂肪酸β-氧化的遗传缺陷不同，因为低血糖与高胰岛素血症相关。我们目前的临床，生化和分子研究结果的四个新的白人患者HADH缺乏症。这些新病例有助于更全面地描述这种定义不明确的疾病的表型，诊断生物标志物和治疗方案。
Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid beta-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.