氨基酸酶1缺乏:关于三个受影响的兄弟姐妹的病例报告
Vratislav Smolka1, David Friedecky2, Jana Kolarova3
1Department of Paediatrics, University Hospital Olomouc, Olomouc, Czech Republic.
AME case reports
|January 18, 2024
概括
氨基酸酶1缺乏症 (ACY1D) 是一种罕见的遗传代谢障碍. 增加的尿酸乙糖素可以作为ACY1D的新型诊断标志物,即使在出现轻微症状的情况下也是如此.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 氨基酸酶1 (ACY1) 缺乏症是一种罕见的自体逆性遗传代谢障碍.
- 仅报告了15例病例,其临床表现变化很大.
- 诊断通常涉及通过气色谱-质谱检测尿液中检测乙化氨基酸.
研究的目的:
- 报告一个14岁男孩患有轻度智力障碍和非酒精性脂肪肝疾病的ACY1缺乏病例.
- 突出新型尿路代谢标志物用于ACY1缺乏.
- 建议在患有不明原因智力和发育障碍的儿科患者进行ACY1缺乏症查.
主要方法:
- 气色谱-质谱测量用于尿液有机酸分析.
- 针对性下一代测序用于遗传确认ACY1缺陷.
- 对受影响的兄弟姐妹进行临床评估和随访.
主要成果:
- 患者表现出N-乙氨酸,N-乙甲氨酸和N-乙甲胺在尿液中的分泌量增加.
- 遗传分析显示,ACY1基因中存在一个同胞性致病性误解突变 (c.1057C>T,p.Arg353Cys).
- 在两个具有不同智力能力的兄弟中发现了相同的突变,并且没有观察到任何恶化.
结论:
- 尿液中乙甘氨酸分泌量的增加可能是ACY1缺乏症的有希望的标志物.
- 在患有精神能力不均的儿科患者中,包括自闭症谱系障碍,应考虑对ACY1缺乏的代谢测试.
- 早期诊断和干预,如语音教育,可以带来积极的结果.
相关概念视频
01:20Inborn Errors of Metabolism
160
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
160
01:21Overview of Protein Metabolism
1.2K
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
1.2K
01:35Pedigree Analysis
84.3K
Overview
84.3K
02:41Lethal Alleles
15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
01:19Allosteric Proteins-ATCase
5.7K
Binding sites linkages can regulate a protein's function. For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
5.7K
01:31Translation
142.0K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.0K