ACY1突变,该基因编码aminoacylase 1,导致小说新陈代谢的先天的错误。
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Sass乔,莫尔V, Olbrich H, Engelke U,霍J, Fliegauf M,逻各斯NT, Schweitzer-Krantz年代,Moebus R,维勒P, Kispert, Superti-Furga,威夫RA,奥木兰·H
ACY1突变,该基因编码aminoacylase 1,导致小说新陈代谢的先天的错误。
J哼麝猫。2006年3月,78 (3):401 - 9。Epub 2006年1月18日。
- PubMed ID
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16465618 (在PubMed]
- 文摘
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氨基乙酰化作用的蛋白质是一个广泛和高度保守的过程。Aminoacylase 1 (ACY1;EC aminoacylases 3.5.14)是最丰富的,一个类的酶参与了对蛋白质的水解。在这里,我们给四个孩子ACY1的基因缺陷。他们通过有机酸确定使用气相色谱分析-质谱法分析,揭示对几种氨基酸尿排泄增加,包括衍生品的蛋氨酸、谷氨酸、丙氨酸、亮氨酸、甘氨酸、缬氨酸和异亮氨酸。核磁共振光谱分析尿液样本检测对代谢产物的不同模式,符合ACY1功能障碍。功能分析病人的淋巴母证明ACY1缺乏症。分析发现隐性功能丧失或错义突变ACY1突变影响的四个人。我们得出这样的结论:这些孩子ACY1突变导致功能性ACY1对氨基酸的缺乏和排泄。问题仍然存在,然而,ACY1缺乏症的临床意义。 The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject), marked muscular hypotonia (one subject), and follow-up for early treated biotinidase deficiency and normal clinical findings (one subject). Because ACY1 is evolutionarily conserved in fish, frog, mouse, and human and is expressed in the central nervous system (CNS) in human, a role in CNS function or development is conceivable but has yet to be demonstrated. Thus, at this point, we cannot state whether ACY1 deficiency has pathogenic significance with pleiotropic clinical expression or is simply a biochemical variant. Awareness of this new genetic entity may help both in delineating its clinical significance and in avoiding erroneous diagnoses.