Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration

Kahook, Malik Y.; Mandava, N.; Bateman, J. Bronwyn; Thomas, Janet A.

doi:10.1136/bjo.2005.080648

Cited by 5 publications

(4 citation statements)

References 5 publications

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“…55 Benign intracranial hypertension has been reported in another case, in combination with optic atrophy and pigmentary retinopathy. 56 Furthermore, one patient with ALG6-CDG presented with dilated cardiomyopathy. 57 …”

Section: Selected Specific Defectsmentioning

confidence: 99%

Neurology of inherited glycosylation disorders

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Eklund

et al. 2012

The Lancet Neurology

179

176

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Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities, (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorders of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.

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Section: Selected Specific Defectsmentioning

confidence: 99%

Neurology of inherited glycosylation disorders

Freeze

Eklund

et al. 2012

The Lancet Neurology

179

176

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“…ALG6-CDG (MIM #603147) is caused by defects in the ALG6 gene coding for Dol-P-Glc:Man9-GlcNAc2-P-P-Dol glucosyltransferase (glucosyltransferase 1). It is as a rule milder than PMM2-CDG (CDGIa) and is characterized by psychomotor retardation, axial hypotonia, seizures, ataxia, strabismus, feeding difficulties and a very low serum cholesterol and clotting factor XI [ 11 - 14 ]. Other reported features include retinal degeneration [ 10 ], deep vein thrombosis, and pseudotumor cerebri [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Al‐Owain

Mohamed

Kaya

et al. 2010

Orphanet J Rare Dis

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Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy.

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“…ALG6-CDG ( CDG-Ic ) was previously classified as carbohydrate-deficient syndrome type V16 and is characterized by mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy 17–19. The clinical presentation may be milder than in PMM2-CDG ( CDG-Ia ) and stroke-like episodes and peripheral neuropathy have not been reported.…”

Section: N-linked Glycosylation Defectsmentioning

confidence: 99%

“…The clinical presentation may be milder than in PMM2-CDG ( CDG-Ia ) and stroke-like episodes and peripheral neuropathy have not been reported. However, retinal degeneration has been reported 19. An adult with ALG6-CDG ( CDG-Ic ) was described with brachydactyly, deep vein thrombosis, pseudotumor cerebri with normal brain MRI, and endocrine abnormalities including hyperandrogenism with virilization 20.…”

Section: N-linked Glycosylation Defectsmentioning

confidence: 99%

Congenital protein hypoglycosylation diseases

Sparks¹

2012

TACG

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Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation.

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Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration

Cited by 5 publications

References 5 publications

Neurology of inherited glycosylation disorders

Neurology of inherited glycosylation disorders

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Congenital protein hypoglycosylation diseases

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