Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation
| Autor: | Sergej Šesták, A. Salingova, Ingrid Brucknerová, M. Ostrozlikova, Barbara Sivakova, J Brucknerova, C. Sebova, M Skoknova, Jana Bellova, Vladimir Bzduch, Jan Mucha, Marek Nemčovič, J. Ziburova, Zuzana Pakanová, D E Lekka, Peter Barath |
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| Rok vydání: | 2021 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Economics and Econometrics Glycosylation Immunologic Factors business.industry Infant Newborn Forestry Enzymatic process Bioinformatics chemistry.chemical_compound Congenital Disorders of Glycosylation chemistry Metabolic Diseases Liver enzyme Failure to thrive Materials Chemistry Media Technology Medicine Humans Mass Screening medicine.symptom business Child Glycan Analysis |
| Zdroj: | Bratislavske lekarske listy. 122(3) |
| ISSN: | 0006-9248 |
| Popis: | Aim Congenital disorders of glycosylation (CDG) belong to an expanding group of rare genetic metabolic disorders caused by defects in the complex chemical enzymatic process of glycosylation. The study is aimed at presenting a case report of a premature dysmorphic newborn, clinical presentation of the condition, the way it was diagnosed and treated, as well as its comparison with the known cases. Results The result of glycan analysis supports the assumption of a supposed glycosylation disorder and also specifies a specific subtype: CDG-1, subtype ALG12-CDG (Ig). Conclusion CDG have an extremely wide clinical spectrum and should be considered in any child with unexplained developmental delay, failure to thrive, seizures, and abnormalities in liver enzymes, coagulation and immunologic factors. The treatment of most forms of CDG depends upon numerous factors such as specific symptoms present, severity of the disorder, age and overall health of the patients and tolerance to certain medications or procedures. For these reasons, the treatment is specific for every individual. It is based on the symptoms and requires a coordination of efforts of a team of specialists (Tab. 4, Fig. 3, Ref. 19). |
| Databáze: | OpenAIRE |
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