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Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
Journal of Inherited Metabolic Disease, 40 (2017), 1; 5-20. https://doi.org/10.1007/s10545-016-9972-7
Barić, Ivo; Staufner, Christian; Augoustides-Savvopoulou, Persephone; Chien, Yin-Hsiu; Dobbelaere, Dries; Grünert, Sarah C.; Opladen, Thomas; Petković Ramadža, Danijela; Rakić, Bojana; Wedell, Anna; Blom, Henk J.

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Barić, I., Staufner, C., Augoustides Savvopoulou, P., Chien, Y. H., Dobbelaere, D., Grünert, S. C. ... Blom, H. J. (2017). Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. Journal of Inherited Metabolic Disease, 40. (1), 5-20. doi: 10.1007/s10545-016-9972-7

Barić, Ivo, et al. "Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders." Journal of Inherited Metabolic Disease, vol. 40, br. 1, 2017, str. 5-20. https://doi.org/10.1007/s10545-016-9972-7

Barić, Ivo, Christian Staufner, Persephone Augoustides Savvopoulou, Yin Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, et al. "Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders." Journal of Inherited Metabolic Disease 40, br. 1 (2017): 5-20. https://doi.org/10.1007/s10545-016-9972-7

Barić, I., et al. (2017) 'Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders', Journal of Inherited Metabolic Disease, 40(1), str. 5-20. doi: 10.1007/s10545-016-9972-7

Barić I, Staufner C, Augoustides Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, i sur.. Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. Journal of Inherited Metabolic Disease [Internet]. 01.2017. [pristupljeno 12.04.2024.];40(1):5-20. doi: 10.1007/s10545-016-9972-7

I. Barić, et al., "Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders", Journal of Inherited Metabolic Disease, vol. 40, br. 1, str. 5-20, Siječanj 2017. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:857700. [Citirano: 12.04.2024.]

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Naslov (engleski)Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
AutorIvo Barić
AutorChristian Staufner
AutorPersephone Augoustides-Savvopoulou
AutorYin-Hsiu Chien
AutorDries Dobbelaere
AutorSarah C. Grünert
AutorThomas Opladen
AutorDanijela Petković Ramadža
AutorBojana Rakić
AutorAnna Wedell
AutorHenk J. Blom
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
Inherited methylation disorders are a group of rarely reported, probably largely underdiagnosed disorders affecting transmethylation processes in the metabolic pathway between methionine and homocysteine. These are methionine adenosyltransferase I/III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase and adenosine kinase deficiencies. This paper provides the first consensus recommendations for the diagnosis and management of methylation disorders. Following search of the literature and evaluation according to the SIGN-methodology of all reported patients with methylation defects, graded recommendations are provided in a structured way comprising diagnosis (clinical presentation, biochemical abnormalities, differential diagnosis, newborn screening, prenatal diagnosis), therapy and follow-up. Methylation disorders predominantly affect the liver, central nervous system and muscles, but clinical presentation can vary considerably between and within disorders. Although isolated hypermethioninemia is the biochemical hallmark of this group of disorders, it is not always present, especially in early infancy. Plasma S-adenosylmethionine and S-adenosylhomocysteine are key metabolites for the biochemical clarification of isolated hypermethioninemia. Mild hyperhomocysteinemia can be present in all methylation disorders. Methylation disorders do not qualify as primary targets of newborn screening. A low-methionine diet can be beneficial in patients with methionine adenosyltransferase I/III deficiency if plasma methionine concentrations exceed 800 μmol/L. There is some evidence that this diet may also be beneficial in patients with S-adenosylhomocysteine hydrolase and adenosine kinase deficiencies. S-adenosylmethionine supplementation may be useful in patients with methionine adenosyltransferase I/III deficiency. Recommendations given in this article are based on general principles and in practice should be adjusted individually according to patient's age, severity of the disease, clinical and laboratory findings.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaJournal of Inherited Metabolic Disease
Brojčani podacivol. 40, br. 1, str. 5-20
p-ISSN0141-8955
DOIhttps://doi.org/10.1007/s10545-016-9972-7
URN:NBNurn:nbn:hr:105:857700
Datum objave publikacije2017-01
URL dokumentahttps://doi.org/10.1007/s10545-016-9972-7
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:46:27