Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient
نویسندگان
چکیده
منابع مشابه
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.
We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation. This patient presented with psychomotor retardation, axial hypotonia, epilepsy, failure to thrive, inverted nipples, hepatomegaly, and pericardial effusion. Due to the ALG9 deficiency, the cells of this patient accumulated the lipid-linked oligosaccharides...
متن کاملCDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
We describe the second case of congenital disorder of glycosylation type IL (CDG-IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted nipples...
متن کاملFurther Delineation of the ALG9-CDG Phenotype.
ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented ...
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15 صفحه اولALG9-CDG: New clinical case and review of the literature
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date...
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ژورنال
عنوان ژورنال: Glycobiology
سال: 2009
ISSN: 0959-6658,1460-2423
DOI: 10.1093/glycob/cwp067