Glycosylation type Ic disorder: Idiopathic intracranial hypertension and retinal degeneration [2]

British Journal of Ophthalmology

Volumn 90, Issue 1, 2006, Pages 115-116

  Kahook, Malik Y ^a,b   Mandava, N ^a   Bateman, J B ^a   Thomas, J A ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b Department of Pediatrics ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALG6 GENE; CASE REPORT; CLINICAL FEATURE; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE MUTATION; GLYCOSYLATION TYPE IC DISORDER; HUMAN; IDIOPATHIC DISEASE; INTRACRANIAL HYPERTENSION; LETTER; LUMBAR PUNCTURE; METABOLIC DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RARE DISEASE; RETINA DEGENERATION; RETINOPATHY; STRABISMUS;

ADULT; CARBOHYDRATE METABOLISM, INBORN ERRORS; FEMALE; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; MEMBRANE PROTEINS; MUTATION; PSEUDOTUMOR CEREBRI; RETINAL DEGENERATION; SYNDROME;

EID: 29744444200     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.080648     Document Type: Letter

References (5)

1. Jaeken J. Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis 2003;26:99-118.
2. Sun L, Eklund E, Van Hove J, et al. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet (accepted).
3. Jensen H, Kjaergaard S, Klie F, et al. Ophthalmic manifestations or congenital disorder of glycosylation type 1a. Ophthal Genet 2003;24:81-8.
4. Imbach T, Burda P, Kuhnert P, et al. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proc Natl Acad Sci USA 1999;96:6982-7.
5. Grunewald S, Imbach T, Huijben K, et al. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol 2000;47:776-81.