Schindler Disease, Type I

Last update 08 May 2025

Basic Info

Synonyms

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET, ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I, ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II

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Introduction

A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.

Clinical Trials associated with Schindler Disease, Type I

NCT01891422

/ CompletedNot ApplicableIIT

Longitudinal Studies of the Glycoproteinoses

The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis. Longitudinal studies of these conditions are needed in order to better define how common the diseases are, identify clinical features which could contribute to early diagnoses, detail progression of the diseases, assess the supportive therapies currently used, and identify potential treatments. Laboratory tests will evaluate metabolic and genetic defects found in participants' blood and urine samples.

Start Date01 Aug 2009

Sponsor / Collaborator

Greenwood Genetic Center, Inc.

100 Clinical Results associated with Schindler Disease, Type I

100 Translational Medicine associated with Schindler Disease, Type I

0 Patents (Medical) associated with Schindler Disease, Type I

Literatures (Medical) associated with Schindler Disease, Type I

01 Mar 2023·Journal of Inherited Metabolic Disease

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Article

Author: Jacobs, Edwin H. ; van den Bosch, Jeroen C. ; van den Hout, Johanna M. P. ; Ruijter, George J. G. ; Oussoren, Esmee ; Hagemeijer, Marne C. ; Bongaerts, Michiel

AbstractOligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐layer chromatography (TLC) but more recently also mass spectrometry‐based approaches have been published. To expand the possibilities to screen for these diseases, we developed an ultra‐high‐performance liquid chromatography (UHPLC) with a high‐resolution accurate mass (HRAM) mass spectrometry (MS) screening platform, together with an open‐source iterative bioinformatics pipeline. This pipeline generates comprehensive biomarker profiles and allows for extensive quality control (QC) monitoring. Using this platform, we were able to identify α‐mannosidosis, β‐mannosidosis, α‐N‐acetylgalactosaminidase deficiency, sialidosis, galactosialidosis, fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, GM2 gangliosidosis (M. Sandhoff) and mucolipidosis II/III in patient samples. Aberrant urinary oligosaccharide excretions were also detected for other disorders, including NGLY1 congenital disorder of deglycosylation, sialic acid storage disease, MPS type IV B and GSD II (Pompe disease). For the latter disorder, we identified heptahexose (Hex7), as a potential urinary biomarker, in addition to glucose tetrasaccharide (Glc4), for the diagnosis and monitoring of young onset cases of Pompe disease. Occasionally, so‐called “neonate” biomarker profiles were observed in young patients, which were probably due to nutrition. Our UHPLC/HRAM‐MS screening platform can easily be adopted in biochemical laboratories and allows for simple and robust screening and straightforward interpretation of the screening results to detect disorders in which aberrant oligosaccharides accumulate.

07 Feb 2023·The World Journal of Biological Psychiatry

Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder

Article

Author: Yilmaz, Seda ; Öner, Pınar

OBJECTIVESBelieving that a neurodevelopmental pathology may cause bipolar affective disorder (BAD), we aimed to measure the concentrations of α-N-acetylgalactosaminidase (α-NAGAL), a lysosomal enzyme.METHODSThe study included 32 patients with BAD and 32 healthy controls. The Young Mania Rating Scale was used to measure the severity of the disease. Serum α-N-acetylgalactosaminidase concentrations were measured in all blood samples using the human α-N-acetylgalactosaminidase ELISA Kit.RESULTSA statistically significant difference was found in the α-NAGAL values between the groups. The mean α-NAGAL values of BAD patients are lower than the mean α-NAGAL values of the control group. A strong negative and statistically significant relationship was found between the α-NAGAL values of patients with BAD and their Young Mania Rating Scale scores. And a positive strong correlation was found between the age of onset of the disease and α-NAGAL levels.CONCLUSIONSLow α-N-acetylgalactosaminidase concentrations may cause the accumulation of some glycoproteins in the lysosomes in the brain during the gestational period, producing the clinical symptoms of BAD. α-N-acetylgalactosaminidase deficiency may not be the only cause of BAD, but it may be an important factor in the aetiology of this disease.

01 Oct 2022·International Journal of Rheumatic Diseases

Aberrant messenger RNA expression in peripheral blood mononuclear cells is associated with gouty arthritis

Article

Author: Xi, Yujiang ; Yang, Xiaoli ; Li, Zhenming ; Liu, Yi ; Xiao, Niqing ; Qin, Dongdong ; Peng, Jiangyun ; Zhao, Ting ; Ren, Yifei ; Li, Zhaofu ; Shen, Jiayan ; Xie, Zhaohu ; Shao, Shuiyan

AbstractAimGouty arthritis (GA) is a type of self‐limiting inflammatory arthritis caused by deposition of monosodium urate (MSU). This study aimed to analyze the expression variation of messenger RNAs (mRNAs) in GA patients and investigated the role of mRNAs in GA pathogenesis.MethodsFive patients with acute GA (AGA), 5 with non‐acute GA (NAGA), and 5 healthy controls (HC) were recruited to examine differential mRNA expression profiles in peripheral blood mononuclear cells (PBMCs) and explore whether mRNA is involved in the pathogenesis of AGA. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) databases were used to study the biological functions of differentially expressed mRNA and the relationship between genes and signal pathways.ResultsCompared with HC, the AGA group had 1456 differentially expressed mRNAs, while the NAGA group had 437 differentially expressed mRNAs and compared with the NAGA group, 115 differentially expressed mRNAs were found in the AGA group. GO analysis showed that the differentially expressed mRNA in the AGA group was mainly enriched in processes related to leukocyte activation and immune response, while KEGG analysis showed that “Staphylococcus aureus infection” and “Cytokine‐cytokine receptor interaction” are enriched in the up‐regulated mRNAs in the AGA group.ConclusionThis study identified genes and pathways that are differentially expressed during the onset of AGA, which might reveal part of the pathogenesis of the disease and provide clues to explaining the severe pain associated with disease onset and the rapid development of inflammatory response that subsides by itself.

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Schindler Disease, Type I

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