The carbohydrate deficient glycoprotein syndrome in three Japanese children

Ohno, Kousaku; Yuasa, Isao; Akaboshi, Shinjiro; Itoh, Masayuki; Yoshida, Kazunari; Ehara, Hiroaki; Ochiai, Yasuo; Takeshita, Kenzo

doi:10.1016/s0387-7604(12)80276-2

Cited by 51 publications

(36 citation statements)

References 18 publications

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“…Tf is not the only aberrantly glycosylated protein in this condition. Other glycoproteins such as c~1 antitrypsin and ceruloplasmin have also been found to be glycosylated differently [22,23]. The metabolic error in protein glycosylation in this disease is not well-defined and it is known as the carbohydrate deficient glycoprotein syndrome (CDG).…”

Section: Resultsmentioning

confidence: 99%

Transferrin microheterogeneity as a probe in normal and disease states

et al. 1995

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Isoelectric focusing of iron saturated serum has been established as a convenient method for showing transferrin gtycan microheterogeneity, In a clinical setting, the m~ thod is used in the detection of cerebrospinal fluid leakage, the screening for surreptitious alcohol abuse and in the diagnosis of the carbohydrate deficient glycoprotein syndrome. In normal physiological states it can also be used as a tool to probe for changes in N-glycosylation.

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Section: Resultsmentioning

confidence: 99%

Transferrin microheterogeneity as a probe in normal and disease states

et al. 1995

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“…The most striking biochem ical feature is a decrease in tetrasialotransferrin and an increase in disialo-and asialotransferrin. Naturally, neur aminidase treatment provides normal band patterns con sisting of only the asialoform of transferrin [48]. On the other hand, interestingly, unusual bands of ORM are still observed even after complete desialylation.…”

Section: ]mentioning

confidence: 97%

“…The ORM1B9 variant is found as a product of ORMl*B9 and ORMl*dB9S at appreciable frequencies in some Asians [16,17,25,32,33], Brazilian Indians [34] and Papuans [Yuasa et al, unpublished genetic products. As shown in figure 6, such a case was encountered in patients with carbohydrate-deficient gly coprotein syndrome, characterized by mental retarda tion, hepatopathy during infancy, nonprogressive ataxia, growth retardation and polyneuropathy [42][43][44][45][46][47], Japa nese patients [48] had six-band patterns, as if they had arisen from duplication of the ORM gene. The two pa tients and their mother shared the rare variant ORM2 H12, which has only been found in 3 Japanese and Korean family/individuals thus far [32,33,36].…”

Section: ]mentioning

confidence: 99%

Orosomucoid System: 17 Additional Orosomucoid Variants and Proposal for a New Nomenclature

Eap¹,

Duche²,

Baumann³

et al. 1993

Vox Sanguinis

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There are two forms of orosomucoid (ORM) in the sera of most individuals. They are encoded by two separate but closely linked loci, ORM1 and ORM2. A number of variants have been identified in various populations. Duplication and nonexpression are also observed in some populations. Thus, the ORM system is very complicated and its nomenclature is very confusing. In order to propose a new nomenclature, ORM variants detected by several laboratories have been compared and characterized by isoelectric focusing (IEF) followed by immunoprinting. A total of 57 different alleles including 17 new ones were identified. The 27 alleles were assigned to the ORM1 locus, and the others to the ORM2 locus. The designations ORM*F1, ORM1*F2, ORM1*S and ORM2*M were adopted for the four common alleles instead of ORM1*1, ORM1*3, ORM1*2 and ORM2*1 (ORM2*A), respectively. The variants were designated alphanumerically according to their relative mobilities after IEF in a pH gradient of 4.5-5.4 with Triton X-100 and glycerol. For the duplicated genes a prefix is added to a combined name of two alleles, e.g. ORM1*dB9S. Silent alleles were named ORM1*Q0 and ORM2*Q0 conventionally. In addition, the effects of diseases to ORM band patterns after IEF are also discussed.

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“…Some claim that it is a developmentally regulated process, whereas others have published postnatal onset. 86 It is known, however, that it has a progressive nature 87,88 and it is thus feasible to speculate that cerebellar function could be partially spared by early interventional therapy.…”

Section: Figmentioning

confidence: 99%

The congenital disorders of glycosylation: A multifaceted group of syndromes

Eklund

Freeze

2006

NeuroRX

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Summary:The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. To date the group contains 18 different subtypes: 12 of Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor) and 6 of Type II (malfunctioning trimming/processing of the protein-bound oligosaccharide). Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib and CDG-IIc are exceptions), even though attempts to synthesize drugs for the most common subtype, CDG-Ia, have been made. In this review we will discuss the individual syndromes, with focus on their neuronal involvement, available and possible treatments, and future directions.

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The carbohydrate deficient glycoprotein syndrome in three Japanese children

Cited by 51 publications

References 18 publications

Transferrin microheterogeneity as a probe in normal and disease states

Transferrin microheterogeneity as a probe in normal and disease states

Orosomucoid System: 17 Additional Orosomucoid Variants and Proposal for a New Nomenclature

The congenital disorders of glycosylation: A multifaceted group of syndromes

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