Lipidoses detected in Poland through 1993.

Pediatr Neurol

Department of Genetics, Child's Health Centre, Warsaw, Poland.

Published: November 1994

It is estimated that 70-100 children suffering from a lysosomal storage disease are born in Poland every year. From 1975 to 1993, the activity of various lysosomal enzymes was determined in the leukocytes, cultured skin fibroblasts, or hair roots from 5,594 patients, mainly children, in whom the diagnosis of a lipidosis was suspected. In that material 162 cases of a lipidosis were diagnosed. Metachromatic leukodystrophy seems to be the most frequent of the lipidoses; GM1 gangliosidosis is more frequent than GM2 gangliosidosis and Gaucher and Niemann-Pick diseases appear to be almost as frequent as the former.

Download full-text PDF

Source
http://dx.doi.org/10.1016/0887-8994(94)90004-3DOI Listing

Publication Analysis

Top Keywords

lipidoses detected
4
detected poland
4
poland 1993
4
1993 estimated
4
estimated 70-100
4
70-100 children
4
children suffering
4
suffering lysosomal
4
lysosomal storage
4
storage disease
4

Similar Publications

Microcystin (MC), a hepatotoxin produced by cyanobacteria, was introduced into the Indian River Lagoon (IRL), Florida, in 2005 through freshwater outflows. Since then, MC has been detected in humans, domestic animals, and wildlife in the lagoon. Potential public health effects associated with MC exposure along the IRL include an increased risk of non-alcoholic liver disease among area residents.

View Article and Find Full Text PDF

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.

Biomolecules

December 2024

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Centre de Recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.

Background: Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that simplifies the collection, storage, and shipping of samples compared to using liquid urine specimens.

Objectives: (1) Develop and validate a multiplex ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) methodology using DUS to quantify twenty-one lysosphingolipids normalized to creatinine for eight different sphingolipidoses.

View Article and Find Full Text PDF

Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.

Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.

View Article and Find Full Text PDF

[Clinical observation and anti-drug antibody monitoring of enzyme replacement therapy in children with Fabry disease].

Zhonghua Er Ke Za Zhi

January 2025

Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou310052, China.

To analyze the efficacy of enzyme replacement therapy and anti-drug antibody production in children with Fabry disease. The clinical data of 7 children with Fabry disease treated with enzyme replacement therapy for more than 1 year at Children's Hospital of Zhejiang University School of Medicine from July 2021 to June 2024 were retrospectively analyzed. The basic information and the changes of related clinical indicators before and after treatment were collected.

View Article and Find Full Text PDF

The detection of antidrug antibodies (ADAs) is important for monitoring patients with Fabry disease who are undergoing enzyme replacement therapy (ERT) with recombinant α-galactosidase A (GLA) drugs, as ADAs can cause allergic reactions and reduce therapeutic efficacy. Various immunological methods, particularly enzyme-linked immunosorbent assay (ELISA), are widely used to measure serum ADA titers in patients with Fabry disease. However, estimating and comparing results of ELISA is challenging because of the absence of a reference antibody.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!