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23 Possible Causes for Transferrin Glycosylation Normal

  • PGM3-Related Congenital Disorder of Glycosylation

    Title Other Names: Phosphoglucomutase 3 deficiency; CID due to PGM3 deficiency; PGM3-related congenital disorder of glycosylation; Phosphoglucomutase 3 deficiency; CID due to PGM3 deficiency; PGM3-related congenital disorder of glycosylation; Combined immunodeficiency due to PGM3 deficiency; Immunodeficiency 23;[…][rarediseases.info.nih.gov]

  • Hemochromatosis

    Glycosylation-defective mutants have fewer disulfide bridges, bind transferrin less efficiently and are expressed less prominently on the surface expression than are normal[sickle.bwh.harvard.edu]

  • Uremic Pneumonitis

    In the familial and VTEC-associated HUS patients, the transferrin isofocusing profile was normal (data not shown).[clinchem.aaccjnls.org] In patient R (not shown), who also had the most abnormal transferrin IEF, no normal TBG isoforms could be detected and clearly abnormal TBG forms were present.[clinchem.aaccjnls.org] Fig. 1B shows the electrophoretic pattern for N-glycosylated thyroxin-binding globulin (TBG) in a representative patient.[clinchem.aaccjnls.org]

  • Congenital Hepatic Fibrosis

    These complex multisystemic lesions all result from defective protein glycosylation that is easily detected using transferrin as an indicator.[journals.lww.com] The absence of sugar chains in transferrin suggest that a defect in the early portion of the glycosylation pathway was responsible for the altered transferrin.[journals.lww.com] Findings in neurologic examinations are mostly normal, and there is little, if any, cognitive deficiency.[journals.lww.com]

  • Cutis Laxa

    […] containing four sialic acid residues Increased amounts of disialo- and trisialo-transferrin that indicate altered N-glycosylation over the normal ranges of: Disialotransferrin[ncbi.nlm.nih.gov] Note: In the authors' experience, all probands had a CDG type 2 sialotransferrin IEF pattern; however, it has been observed that infants may have a normal transferrin isofocusing[ncbi.nlm.nih.gov] 2), support the diagnosis of ATP6V0A2 -related cutis laxa [ Morava et al 2005, Wopereis et al 2005, Morava et al 2008, Guillard et al 2009 ] (see Congenital Disorders of Glycosylation[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    Laboratory Serum CK: 1500 to 4300 CDG type I: Defective N-glycosylation in Endoplasmic reticulum Increased ratio of mono- versus diglycosylated transferrin Partial absence[neuromuscular.wustl.edu] Pseudohypertrophy: Gastrocnemius Tendon reflexes: Reduced or Normal Contractures: Ankle Cardiomyopathy in 1 patient Dilated Stroke-like episodes Short stature CNS & Eye: Normal[neuromuscular.wustl.edu]

  • Autosomal Recessive Frontotemporal Pachygyria

    […] of considering a combined N-linked and O-linked glycosylation defect is highlighted by the observations of a measurement of a normal transferrin IEF pattern in neonates with[nature.com] CDG-Ia. 15 Therefore a normal transferrin IEF pattern, without the concurrent performance of Apo-CIII IEF, can contribute to a missed diagnosis of a combined N-linked and[nature.com] O-linked glycosylation defects.[nature.com]

  • Congenital Disorder of Glycosylation Type 2

    Under conditions of normal glycosylation, most transferrin molecules carry four sialic acid residues and form a single major band on IEF.[sulab.org] Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion.[mayomedicallaboratories.com] Abbreviations CDG congenital disorder of glycosylation CPK creatine phosphokinase ER endoplasmic reticulum IEF isoelectrofocusing INR International Normalized Ratio Tf transferrin[link.springer.com]

  • Mitochondrial Disease

    However, evidence for a glycosylation disorder was substantiated by an increased carbohydrate deficient transferrin (CDT).[ncbi.nlm.nih.gov] Screening for mitochondrial disease including enzyme and mtDNA investigations on muscle biopsy were performed on Patients 1, 2 and 4 with normal results.[ncbi.nlm.nih.gov]

  • ROHHAD Syndrome

    474 N -glycan and carbohydrate-deficient transferrin (congenital disorders of glycosylation) Normal 120 Serum glutaric acid level (glutaric acidemia type 1) Normal 169 MRI[doi.org] 333 Biotinidase enzyme activity (biotinidase deficiency) Normal 115 O -glycan profile and quantification (congenital disorders of glycosylation) Mild changes; repeat, normal[doi.org]

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