Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism that result in impaired function of the peroxisome. Within this, single enzyme deficiencies are known to cause a constellation of symptoms not very different from the peroxisome biogenesis defects. Thus, there is a need to identify features that differentiate the two. We present 3 molecularly confirmed families: 1 with Acyl CoA oxidase deficiency and 2 with D-bifunctional protein deficiency. The clinical, biochemical, and radiological features of these patients have been discussed. We attempt to highlight the overlap in facial features as well as strikingly similar MRI findings of cerebellar atrophy and white matter hyperintensities. This unique clinical profile will not only help in reaching a quick diagnosis, but in this era of variants of uncertain significance, it will prove as supporting evidence. Finally, we expand the genotypic spectrum with a description of 3 homozygous novel mutations (HSD17B4: c.670C#x3e;T, c.1807T#x3e;C; ACOX1: 1.03-kb exonic deletion) and discuss the role of protein modeling its establishing pathogenicity.
Mol Syndromol

中文翻译：

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眼睛看到心灵所知道的：与单一酶缺乏相关的过氧化物酶体紊乱的模式识别线索

过氧化物酶体疾病是先天性代谢错误的异质性组群，会导致过氧化物酶体功能受损。在这种情况下，已知单一酶缺乏症会导致与过氧化物酶体生物发生缺陷没有太大区别的症状。因此，需要识别区别两者的特征。我们介绍了3个分子确证的家族：1个具有酰基CoA氧化酶缺乏症和2个D-双功能蛋白缺乏症。已经讨论了这些患者的临床，生化和放射学特征。我们试图突出面部特征的重叠以及小脑萎缩和白质高信号的惊人的MRI发现。这种独特的临床特征不仅有助于快速诊断，而且在这个意义不明的变体时代，它会被证明是佐证。最后，我们用3个纯合新突变的描述扩展了基因型谱（HSD17B4：c.670C＃x3e; T，c.1807T＃x3e; C; ACOX1：1.03 kb外显子缺失），并讨论蛋白质模拟其建立致病性的作用。
摩尔综合症