埃及异染性脑白质营养不良的相对发病率：一份参考实验室报告。

Relative Frequency of Metachromatic Leukodystrophy in Egypt: A Reference Laboratory Report.

作者信息

Fateen Ekram, Abdallah Zeinab Y

机构信息

Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.

出版信息

Front Biosci (Schol Ed). 2024 Dec 11;16(4):20. doi: 10.31083/j.fbs1604020.

DOI:10.31083/j.fbs1604020

PMID:39736016

Abstract

BACKGROUND

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency in arylsulfatase A (ARSA) activity and belongs to the group of lysosomal storage diseases. A biochemical diagnosis of MLD is based on determining the residual ARSA activity in leukocytes, skin fibroblasts, and urine. This study documents our biochemical experience and estimates the relative frequency of MLD over 21 years (2001-2022).

METHODS

This study analyzed 4357 suspected cases of MLD in Egypt. The ARSA activity was spectrophotometrically determined in leukocytes in all the referred cases.

RESULTS

Of these 4357 referred cases, 577 (13%) possessed decreased ARSA activity, less than 10% of the low normal range (50-200 micromole/gram protein/hour (μmol/g protein/h), and 104 cases were diagnosed as having a pseudodeficiency in enzyme activity (<20-50% of low-normal ARSA activity). The prevalence of MLD was 1.6/100,000.

CONCLUSIONS

A diagnosis of MLD in Egypt is based on enzyme activity levels and clinical suspicion; molecular analysis was performed in a few cases.

摘要

背景

异染性脑白质营养不良（MLD）是一种常染色体隐性遗传性神经退行性疾病，由芳基硫酸酯酶A（ARSA）活性缺乏引起，属于溶酶体贮积病。MLD的生化诊断基于测定白细胞、皮肤成纤维细胞和尿液中的ARSA残余活性。本研究记录了我们的生化诊断经验，并估算了21年（2001 - 2022年）间MLD的相对发病率。