Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:5.4.2.8 (phosphomannomutase)
 238 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital disorders of glycosylation (CDG) is a fast growing group of autosomal recessive inherited diseases caused by defects in glycosylation. The biosynthesis of the glycans is a pathways which occurs in the endoplasmic reticulum and Golgi complex thanks to highly specific enzymes: glycosidases and glycosyltransferases. The sequential addition of monosaccharides needs precursors which are nucleotide sugars or dolichyl sugars. CDG are divided into two groups: CDG I composed of defects in enzymes involved in the assembly of dolicholpyrophosphate oligosaccharide and in the transfer of oligosaccharide from dolicholpyrophosphate to an Asn residue on nascent proteins; CDG II composed of defects in the processing of protein-bound glycans with alterations in enzymes or in the transporters of monosaccharides. Clinical symptoms are poorly specific and multisystemic, biochemistry provides the diagnosis: Isoelectrofocalisation and western blot of serum transferrin and some other glycoproteins; Measurement of enzyme activities; Research of gene mutations. Today, thirteen CDG are identified, the most frequent is CDG Ia due to a defect in the phosphomannomutase activities and CDG Ib due to a defective phosphomannose isomerase, is the only CDG which is successfully treated with mannose.
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PMID:[Congenital disorders of glycosylation]. 1313 Feb 91

The congenital disorders of glycosylation (CDG) are a recently described group of inherited multisystem disorders characterized by defects predominantly of N- and O-glycosylation of proteins. Cardiomyopathy in CDG has previously been described in several subtypes; it is usually associated with high morbidity and mortality and the majority of cases present in the first 2 years of life. This is the first case with presentation in late childhood and the article reviews current literature. An 11-year-old female with a background of learning difficulties presented in cardiac failure secondary to severe dilated cardiomyopathy. Prior to the diagnosis of CDG, her condition deteriorated; she required mechanical support (Excor Berlin Heart) and was listed for cardiac transplant. Investigations included screening for glycosylation disorders, and isoelectric focusing of transferrin revealed an abnormal type 1 pattern. Analysis of phosphomannomutase and phosphomannose isomerase showed normal enzyme activity, excluding PMM2 (CDG Ia) and MPI (CDG Ib). Lipid-linked oligosaccharide and mutational studies have not yet defined the defect. Despite aggressive therapy there were persistent difficulties achieving adequate anticoagulation and she developed multiple life-threatening thrombotic complications. She was removed from the transplant list and died from overwhelming sepsis 5 weeks following admission. This case emphasizes the need to screen all children with an undiagnosed cardiomyopathy for CDG, regardless of age, and where possible to exclude CDG before the use of cardiac bridging devices. It highlights the many practical and ethical challenges that may be encountered where clinical knowledge and experience are still evolving.
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PMID:Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. 1975 45