Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

Jaeken, Jacques; Vanderschueren-Lodeweyckx, M; Casaer, Paul; Snoeck, L; Corbeel, L; Eggermont, Ephrem; Eeckels, R

doi:10.1203/00006450-198002000-00117

Cited by 264 publications

(141 citation statements)

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“…Since its first report in 1980 [1], > 100 patients have been identified [2]. Three clinical variants have been described, of which type I is by far the most frequent.…”

Section: Introductionmentioning

confidence: 99%

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

1995

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Carbohydrate-deficient glycoprotein (CDG) syndromes are genetic multisystemic disorders characterized by defective N-glycosylation of serum and cellular proteins. The activity of pbosphomannomutase was markedly deficient (-< 10% of the control activity) in fibroblasts, liver and/or leucocytes of 6 patients with CDG syndrome type I. Other enzymes involved in the conversion of glucose to mannose l-phosphate, as well as phosphoglucomutase, had normal activities. Phosphomannomutase activity was normal in fibroblasts of 2 patients with CDG syndrome type II. Since this enzyme provides the mannose 1-phosphate required for the initial steps of protein glycosylation, it is concluded that phosphomannomutase deficiency, which is first reported here for higher organisms, is a cause, and most likely the major one, of CDG syndrome type I.

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“…Since its first report in 1980 [1], > 100 patients have been identified [2]. Three clinical variants have been described, of which type I is by far the most frequent.…”

Section: Introductionmentioning

confidence: 99%

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

1995

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“…, but an assignment of a carbohydrate structure from a single experiment still represents a major task. A number of techniques has been applied for structural elucidation of components in carbohydrate mixtures, basically attempting to find diagnostic fragment ions responsible for single structures [2][3][4][5][6][7][8][9][10][11][12][13]. The possibility to obtain distinct fragmentation patterns under controlled collision energy and gas conditions along with the ability of automatic switching between MS and MS/MS mode by electrospray quadrupole time-of-flight Q-TOF instrument, represents a powerful option for high-throughput analysis of complex carbohydrate mixtures.…”

mentioning

confidence: 99%

“…The CDGs were first discovered in 1980 [5], and in the following years a number of human disorders related to the N-glycosylation pathway were identified, according to deficient enzymes involved. At the present time, structural investigations on truncation of glycoforms are usually performed on transferrin by SDS-gel electrophoresis of patient's plasma.…”

mentioning

confidence: 99%

^0,2A_n cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures

Vakhrushev

Zamfir

Peter‐Katalinić

2004

J. Am. Soc. Mass Spectrom.

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In contrast to proteomics significantly less efficient analytical tools are presently available for high throughput glycomics using mass spectrometry. In this article, a strategy to use the 0,2 A n ring cleavage ion at the reducing end of free glycans as a diagnostic ion for assignment of free glycans, in presence of glycopeptides containing similar glycosylation patterns, is presented for rapid distinction in complex mixtures by mass spectrometry. The MS to MS/MS automatic switching, already previously introduced for the on-line LC-MS and CE-MS analysis, is shown in this contribution to be highly functional to obtain diagnostic fragmentation patterns of free glycan precursors in rapid screening of highly complex glycoconjugate mixtures obtained from clinical samples, namely from the urine of patients suffering from congenital disorders of glycosylation. Congenital disorders of glycosylation (CDG) are inherited metabolic diseases based on defects in the glycosylation pathways of glycoconjugates. The urine of CDG patients was reported to contain O-glycans and glycosylated amino acids at concentrations two to three orders of magnitude higher in comparison with the healthy control, characterized by a high degree of heterogeneity concerning the type, number, and values of molecular ions. Using the 0,2 A n ring cleavage ion approach by tandem MS, it was possible to sort out free glycans and get them assigned. , but an assignment of a carbohydrate structure from a single experiment still represents a major task. A number of techniques has been applied for structural elucidation of components in carbohydrate mixtures, basically attempting to find diagnostic fragment ions responsible for single structures [2][3][4][5][6][7][8][9][10][11][12][13]. The possibility to obtain distinct fragmentation patterns under controlled collision energy and gas conditions along with the ability of automatic switching between MS and MS/MS mode by electrospray quadrupole time-of-flight Q-TOF instrument, represents a powerful option for high-throughput analysis of complex carbohydrate mixtures. This technique can be another option for such rapid investigation in combination with fully automated chip-ESI-QTOF-MS for high-performance glycoscreening and sequencing, developed by our group [14].The electrospray ionization followed by formation of fragment ions by collision-induced dissociation allows sensitive mapping and sequencing of oligosaccharides for identification. In general, carbohydrates undergo two different types of fragmentation: those of glycosidic cleavages and those of cross-ring fragmentation. For sequencing, glycosidic cleavages along the chain B, C, Y, Z and those from the internal oligosaccharide chain B/Y, C/Y, are major tools for structural elucidation (nomenclature by Domon and Costelo [15]). According to the cross-ring fragmentation linkage and branching patterns can be established.In this context, the formation of a D fragment ion was previously found to be diagnostic for the differentiation of isomeric triantennary N-g...

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“…Since the initial description of CDG in 1980 (Jaeken et al 1980), serum transferrin IEF with immunodetection has been widely used as a screening test. Any defect in the synthesis or processing of these glycans results in the alteration of sialotransferrin isoforms, which is detectable by IEF according to their different charges (Jaeken 2003).…”

Section: Introductionmentioning

confidence: 99%

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

et al. 2011

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Congenital disorders of glycosylation (CDG) are genetic diseases caused by abnormal protein and lipid glycosylation. In this chapter, we report the clinical, biochemical, and molecular findings in two siblings with an unidentified CDG (CDG-Ix). They are the first and the third child of healthy consanguineous Argentinean parents. Patient 1 is now a 11-year-old girl, and patient 2 died at the age of 4 months. Their clinical picture involved liver dysfunction in the neonatal period, psychomotor retardation, microcephaly, seizures, axial hypotonia, feeding difficulties, and hepatomegaly. Patient 1 also developed strabismus and cataract. They showed a type 1 pattern of serum sialotransferrin. Enzymatic analysis for phosphomannomutase and phosphomannose isomerase in leukocytes and fibroblasts excluded PMM2-CDG and MPI-CDG. Lipid-linked oligosaccharide (LLO) analysis showed a normal profile. Therefore, this result could point to a deficiency in the dolichol metabolism. In this context, ALG8-CDG, DPAGT1-CDG, and SRD5A3-CDG were analyzed and no defects were identified. In conclusion, we could not identify the genetic deficiency in these patients yet. Further studies are underway to identify the basic defect in them, taking into account the new CDG types that have been recently described.

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Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

Cited by 264 publications

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Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

^0,2A_n cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

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Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

Cited by 264 publications

References 0 publications

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

0,2An cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

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^0,2A_n cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures