相关实验视频

Updated: Jul 18, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

病例报告:早期 (分子) 诊断是线索:关于新生儿ALDH7A1缺陷的报告

Patryk Lipiński^1,2, Katarzyna Wójcicka-Kowalczyk³, Anna Bogdańska⁴

¹Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland.

Frontiers in genetics

|September 27, 2024

概括

金素依赖性 (PDE-ALDH7A1) 是一种罕见的遗传代谢疾病,导致婴儿早期发育和性脑病变. 基因测试确定了ALDH7A1中的致病变体,但生化标志物分析因药物干扰而复杂化.

科学领域:

遗传学遗传学是一个
代谢障碍代谢障碍代谢障碍
神经科学是一个神经科学.

背景情况:

发育性和性脑病变 (DEE) 越来越多地使用一级遗传检测来诊断.
金素依赖性 (PDE-ALDH7A1) 是一种遗传性代谢障碍,表现为婴儿早期的DEE.
对于PDE-ALDH7A1的生物化学标记物,如pipecolic acid (PA) 和6-oxopipecolate (6-oxo-PIP),已知存在分析限制.

研究的目的:

报告一个新生儿患有早期发作的病例,诊断为PDE-ALDH7A1.1.
为了突出在这种情况下与生物化学标记物分析遇到的诊断挑战.
强调基因测试在诊断PDE-ALDH7A1.1.1.中的有用性.

主要方法:

针对性下一代测序 (NGS) 用于识别ALDH7A1基因中的致病变体.
使用气体染色体质谱法 (GC-MS) 进行了尿道有机酸分析.
试图分析包括PA和6-oxo-PIP在内的生化标志物.

主要成果:

一个新生儿从出生就出现了耐火性发作.
在ALDH7A1中,NGS揭示了复合异构性致病变体,证实了PDE-ALDH7A1.1.
对6-oxo-PIP的GC-MS分析受到 levetiracetam干扰的阻碍,这是由于类似的保留时间.

结论:

基因检测对于诊断PDE-ALDH7A1至关重要,特别是当生物化学标志物没有确定性时.
levetiracetam 的存在可能会干扰 GC-MS 检测 6-oxo-PIP,使诊断复杂化.
早期诊断和适当的管理对于改善DEE的结果至关重要.

关键词:

6 - 氧皮皮巧克力这种基因是ALDH7A1基因.发育性和性脑病变.这是下一代测序.皮里多克辛依赖性发症

更多相关视频

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

Application of AlDeSense to Stratify Ovarian Cancer Cells Based on Aldehyde Dehydrogenase 1A1 Activity

Application of AlDeSense to Stratify Ovarian Cancer Cells Based on Aldehyde Dehydrogenase 1A1 Activity

Published on: March 31, 2023

相关概念视频

Pedigree Analysis

Pedigree Analysis

Inborn Errors of Metabolism

Inborn Errors of Metabolism

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...