Home Bratislava Medical Journal 2021 Bratislava Medical Journal Vol.122, No.3, p.190–195,2021

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.2

 

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Bratislava Medical Journal Vol.122, No.3, p.190–195,2021

Title: Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation
Author: D. E. Lekka, J. Brucknerova, A. Salingova, C. Sebova, M. Ostrozlikova, J. Ziburova, M. Nemcovic, S. Sestak, J. Bellova, Z. Pakanova, B. Sivakova, M. Skoknova, V. Bzduch, J. Mucha, P. Barath, I. Brucknerova

Abstract: 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).

Keywords: newborn, congenital disorders of glycosylation, antithrombin III
Published online: 12-Feb-2021
Year: 2021, Volume: 122, Issue: 3 Page From: 190, Page To: 195
doi:10.4149/BLL_2021_030


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