منابع مشابه
MAN1B1 Deficiency: An Unexpected CDG-II
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation and trun...
متن کاملRFT1 deficiency in three novel CDG patients.
The medical significance of N-glycosylation is underlined by a group of inherited human disorders called Congenital Disorders of Glycosylation (CDG). One key step in the biosynthesis of the Glc(3)Man(9)GlcNAc(2)-PP-dolichol precursor, essential for N-glycosylation, is the translocation of Man(5)GlcNAc(2)-PP-dolichol across the endoplasmic reticulum membrane. This step is facilitated by the RFT1...
متن کاملPhosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
BACKGROUND Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require...
متن کاملA new case of ALG 8 deficiency ( CDG
Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1-Man(9)-GlcNAc(2)-P-P-Dol glucosyltransferase) resulting in inefficient addition of the second glucose residue onto lipid-linked oligosaccharides. So far, only...
متن کاملAn unexpected cause of iron deficiency detected by capsule endoscopy.
A 52-year-old woman was referred to our hospital for analysis of iron deficiency anaemia. Her medical history revealed extirpation of a meningeoma, Graves’ disease and atrial fibrillation. She had no complaints. Physical examination was normal. Laboratory investigations revealed microcytic anaemia (haemoglobin 7.3 mmol/l, mean cell volume 76 fl) and iron deficiency (ferritin 15 μg/l, normally >...
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ژورنال
عنوان ژورنال: PLoS Genetics
سال: 2013
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1003989