Early manifestations of the carbohydrate-deficient glycoprotein syndrome

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

“…Abbreviations used in this paper: CDGS, Carbohydrate-deficient Glycoprotein Syndrome; Con A, concanavalin A; Dol, dolichol; ER, endoplasmic reticulum; Gal, galactose; GalNAc, N-acetyl-galactosamine; GlcNAc, N-acetyl-glucosamine; HPAE, HPLC anion exchange chromatography with pulsed amperometric detection; LLO, lipid-linked oligosaccharide; Man, mannose; PNGase F, peptide-N4-(N-acetyl-13-glucosaminyl)asparigine amidase; Sia, sialic acid; TBA, thiobarbituric acid assay; TFA, trifluoroacetic acid. der affecting multiple organ systems including the central and peripheral nervous systems, liver, bone, adipose tissue, and genital organs (1)(2)(3)(4)(5)(6)(7)(8)(9). Within the first few months of life, affected children present with neurological abnormalities, and their development is marked by variable but often severe psychomotor retardation, lower motor neuron dysfunction, abnormal facies, skeletal anomalies, variable hepatomegaly, and other clinical symptoms and signs.…”

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

“…Other early manifestations are common including nutritional problems, hepatic dysfunction, pericardial effusions, infections, coagulation defects, nephropathy, osteopenia with skeletal deformities, and dystrophic alterations of adipose tissue and skin. [1][2][3][4][5][6][7][8][9] The biochemical changes are dominated by a unique carbohydrate deficiency in a number of serum glycoproteins, which is most readily seen in transferrin.F'8'3 Some of this glycoprotein lacks two or all of its four terminal trisaccharides,'012 and this aberration can be used as a diagnostic biochemical marker of CDG syndrome type J.12 The ultrastructural changes described in liver and sural nerve biopsies are also characteristic, and particularly consist of various kinds of intracellular inclusion bodies and of attenuated myelin sheaths.5I 16 In a few necropsy examinations on children, olivopontocerebellar atrophy has been found, with nerve cell depletion and gliosis.8 17 The clinical expression of CDG syndrome type I in adult patients is incompletely known. We therefore describe here the course and manifestations of CDG syndrome type I in 13 patients who are now past the age of 15 Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease of clinical and biochemical findings' after the age of 15 years in 10 of the patients.…”

Bioética de los Bancos de muestras en la Pesquisa Neonatal

“…Frecuentemente los casos clínicos que llegan tienen un desarrollo retardado o alguna anomalía sugestiva en los estudios de imagen cerebral, como por ejemplo Citomegalo virus o Toxoplasmosis. Pruebas bioquími-cas con carácter retroactivo para este tipo de muestras, que brindan información diagnóstica, incluyen el análisis del síndrome de glicoproteínas deficientes de carbohidratos por electroforesis de transferina (Petersen, Brostrøm et al, 1993) las enfermedades perixosomales y lisosomales por cromatografía gaseosa-espectrometría de masa (Jakobs, van den Heuvel et al, 1993), (Ten Brink, van den Heuvel et al, 1993) y la determinación de los defectos en la oxidación de ácidos grasos por espectrometría de masa-espectrometría de masa (Bantawright, 2008), (Raimann & Cornejo, 2007). Es importante señalar que las pruebas genéticas retroactivas extrayendo DNA de este tipo de muestras son típicamente realizadas en los casos donde el sujeto haya muerto antes de haberse sospechado una enfermedad genética.…”