Congenital disorder of glycosylation type Ic: Report of a Japanese case

Ichikawa, Kazushi; Kadoya, Machiko; Wada, Yoshinao; Okamoto, Nobuhiko

doi:10.1016/j.braindev.2012.09.003

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…Patients with these mutations were described with a phenotype of hypotonia, speech disability, and epilepsy (Lefeber et al 2011). So far, its clinical course and progression is reported in 48 ALG6-CDG patients showing severe psychomotor retardation, seizures, speech disability, some dysmorphic symptoms, and variable presence of failure to thrive, gastrointestinal features, hormonal anomalies, coagulopathy, and elevated transaminase activities (AlOwain et al 2010;Dercksen et al 2013;Drijvers et al 2010;Ichikawa et al 2013;Lefeber et al 2011;Miller et al 2011). Unique features, such as abnormal skeletal development and short fingers, have been described in two ALG6-CDG patients, suggesting a possible association between skeletal development and the primary glycosylation defect (Drijvers et al 2010).…”

Section: Introductionmentioning

confidence: 99%

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava

Tiemes

Thiel

et al. 2016

J of Inher Metab Disea

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Introduction Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency.Methods Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive.

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Section: Introductionmentioning

confidence: 99%

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava

Tiemes

Thiel

et al. 2016

J of Inher Metab Disea

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“…Cerebellar involvement on imaging has been reported in only four patients. 85,86 ALG8-CDG ALG8-CDG (glucosyltransferase 2 deficiency) has been reported in 10 patients with variable neurologic, intestinal, and hepatic involvement. No functional or imaging cerebellar involvement has been reported, but in one patient cerebellar atrophy was found at autopsy.…”

Section: Alg6-cdgmentioning

confidence: 99%

Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement

2014

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Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. The authors present an update on these disorders affecting the central nervous system with a focus on cerebellar involvement. The rate of identification of novel CDG shows an exponential increase. Some 76 CDG are actually known, not taking into account the defects in glycan-modifying proteins. Neurologic involvement is present in the large majority of CDG. Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with sialic acid deficiency), and serum apolipoprotein C-III isoelectrofocusing (for core 1 mucin-type O-glycosylation disorders). Whole exome/genome sequencing is increasingly used in the diagnostic workup of patients with CDG-X. Treatment is greatly lagging behind because only one CDG is efficiently treatable (MPI-CDG). Cerebellar involvement is an important feature of PMM2-CDG, the congenital muscular dystrophies due to dystroglycanopathy, and SRD5A3-CDG. It has also been reported in some patients with ALG1-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, ALG8-CDG, PIGA-CDG, DPM1-CDG, DPM2-CDG, B4GALT1-CDG, SLC35A2-CDG, COG1-CDG, COG5-CDG, COG7-CDG, and COG8-CDG.

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“…39 The authors concluded that mannose supplementation should be avoided in pregnant women. 40 Abnormalities of glycoproteins are also less consistent and less severe. Thirty patients have been recognized.…”

Section: Clinical Features and Diagnostic Evaluationmentioning

confidence: 99%

Congenital Disorders of N-linked Glycosylation

Patterson

2015

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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Congenital disorder of glycosylation type Ic: Report of a Japanese case

Cited by 6 publications

References 11 publications

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement

Congenital Disorders of N-linked Glycosylation

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