Congenital Disorder of Glycosylation, Type Io

Last update 08 May 2025

Basic Info

Synonyms

CDG Io, CDG syndrome type Io, CDG-Io

+ [17]

Introduction

An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22.

100 Clinical Results associated with Congenital Disorder of Glycosylation, Type Io

100 Translational Medicine associated with Congenital Disorder of Glycosylation, Type Io

0 Patents (Medical) associated with Congenital Disorder of Glycosylation, Type Io

Literatures (Medical) associated with Congenital Disorder of Glycosylation, Type Io

01 Nov 2023·Clinical and experimental medicine

Pattern and clinical correlates of renal iron deposition in adult beta-thalassemia major patients.

Article

Author: Spasiano, Anna ; Massei, Francesco ; Cademartiri, Filippo ; Romano, Luigia ; Meloni, Antonella ; Casini, Tommaso ; Argento, Crocetta ; Pistoia, Laura ; Barbuto, Luigi ; Positano, Vincenzo ; Giovangrossi, Piera ; Barone, Angelica

We evaluated pattern and clinical correlates of renal T2* measurements in adult β-thalassemia major (β-TM) patients. Ninety β-TM patients (48 females, 38.15 ± 7.94 years), consecutively enrolled in the Extension-Myocardial Iron Overload in Thalassemia network, underwent T2* magnetic resonance imaging (MRI) for quantification of iron overload (IO) in kidneys, liver, pancreas, and heart. Ten (11.1%) patients showed renal IO (T2* < 31 ms). Global kidney T2* values did not show a correlation with gender, age, splenectomy, regular transfusions or chelation starting age, pre-transfusion hemoglobin, and serum ferritin levels. Global kidney T2* values showed an inverse correlation with MRI liver iron concentration (LIC) values (R = - 0.349; p = 0.001) and a positive correlation with global pancreas T2* values (R = 0.212; p = 0.045). Frequency of renal IO was significantly higher in patients with cardiac IO than in patients without cardiac IO (50.0% vs. 6.3%; p = 0.001). A significant inverse association was detected between global kidneys T2* values and lactate dehydrogenase (LDH) (R = - 0.529; p < 0.0001). In multivariate regression analysis, MRI LIC and LDH were the strongest predictors of global kidney T2* values. A MRI LIC > 4.83 mg/g dw predicted the presence of renal IO (sensitivity = 90.0%; specificity = 61.2%). Global kidney T2* values were inversely correlated with uric acid (R = - 0.269; p = 0.025). In conclusion, in adult β-TM patients, renal iron deposition is not common and is linked to both hemolysis and total body iron overload.

01 Oct 2021·Biological Trace Element ResearchQ3 · BIOLOGY

Diagnosis of Systemic Diseases Using Infrared Spectroscopy: Detection of Iron Overload in Plasma—Preliminary Study

Q3 · BIOLOGY

Article

Author: Dos Santos, Leonardo ; Nogueira, Marcelo Saito ; de Carvalho, Luis Felipe das Chagas E Silva ; Leal, Leonardo Barbosa ; Martini, Thiago Pereira ; Barauna, Valério Garrone ; Mageski, Jandinay Gonzaga Alexandre

Despite the important role of iron in cellular homeostasis, iron overload (IO) is associated with systemic and tissue deposits which damage several organs. In order to reduce the impact caused by IO, invasive diagnosis exams (e.g., biopsies) and minimally invasive methods were developed including computed tomography and magnetic resonance imaging. However, current diagnostic methods are still time-consuming and expensive. A cost-effective solution is using Fourier-transform infrared spectroscopy (FTIR) for real-time and molecular-sensitive biofluid analysis during conventional laboratory exams. In this study, we performed the first evaluation of the accuracy of FTIR for IO diagnosis. The study was performed by collecting FTIR spectra of plasma samples of five rats intravenously injected with iron-dextran and five control rats. We developed a classification model based on principal component analysis and supervised methods including J48, random forest, multilayer perceptron, and radial basis function network. We achieved 100% accuracy for the classification of the IO status and provided a list of possible biomolecules related to the vibrational modes detected. In this preliminary study, we give a first step towards real-time diagnosis for acute IO or intoxication. Furthermore, we have expanded the literature knowledge regarding the pathophysiological changes induced by iron overload.

01 Feb 2020·Neurology GeneticsQ3 · MEDICINE

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

Q3 · MEDICINE

ArticleOA

Author: Moore, Steven A. ; Veerapandiyan, Aravindhan ; Saylam, Ezgi ; Stefans, Vikki ; Aravindhan, Akilandeswari ; Gokden, Murat ; Nagy, Peter L. ; Cox, Mary O. ; Marton, Heather

Limb-girdle muscular dystrophy 2I (LGMD2I, LGMD R9) (OMIM: muscular dystrophy—dystroglycanopathy [limb-girdle], type C, 5) is an autosomal recessive disorder caused by mutations in the fukutin-related protein ( FKRP ) gene.1 The phenotypic spectrum associated with FKRP is heterogeneous; the most severe phenotype, Walker-Warburg-like syndrome, is characterized by congenital hypotonia, progressive muscle weakness and atrophy, ocular and brain malformations, severe motor developmental delay, and profound intellectual disability. Milder phenotypes include the onset of disease from infancy to adulthood and variable clinical course including asymptomatic elevated serum creatinine kinase (CK), early onset rapidly progressive course with loss of ambulation in teenage years, late onset with slow progression, and primary cardiomyopathy with minimal skeletal muscle weakness.1,2 LGMD2I is typically characterized by proximal muscle weakness, calf hypertrophy, hypotonia, elevated CK level, normal cognition, and no structural brain abnormalities. Dilated cardiomyopathy and respiratory muscle weakness can be seen.1 Mutations in the FKRP gene reduce specific O-mannose-linked glycosylation of alpha-dystroglycan, leading to the instability of the linkage between the dystrophin–glycoprotein complex and laminin alpha 2 in the basement membrane of skeletal muscle.3 The most common FKRP mutation seen in LGMD2I is c.826C>A (p.Leu276Ile). Patients who are homozygous for this mutation typically have a milder phenotype, whereas compound heterozygotes have a relatively severe clinical course. In patients heterozygous for c.826C>A, clinical severity may correspond best to the mutation in the second allele.1,4 We describe a 9-year-old boy with LGMD2I who has the c.826C>A mutation in FKRP on 1 allele and a novel variant on the second allele. The authors acknowledge Ms. Terese Nelson who performed the histology and immunostaining and Mr. Joel Carl for assembling the figure

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Congenital Disorder of Glycosylation, Type Io

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