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[Diet treatment of classical galactosemia].
Orv Hetil. 2017 Nov; 158(47):1864-1867.OH

Abstract

Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary. Affected newborns are recognized in the first days of their life, and special diet is introduced immediately. The therapy of galactosemia is the lactose-free and galactose-poor diet for life. As a result of the nationwide newborn screening and the lifelong medical therapy, early treatment with galactosemia can achieve a normal life without serious complications. Orv Hetil. 2017; 158(47): 1864-1867.

Authors+Show Affiliations

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53.,1083.I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53.,1083.II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

Pub Type(s)

Journal Article
Review

Language

hun

PubMed ID

29153024

Citation

Kiss, Erika, et al. "[Diet Treatment of Classical Galactosemia]." Orvosi Hetilap, vol. 158, no. 47, 2017, pp. 1864-1867.
Kiss E, Balogh L, Reismann P. [Diet treatment of classical galactosemia]. Orv Hetil. 2017;158(47):1864-1867.
Kiss, E., Balogh, L., & Reismann, P. (2017). [Diet treatment of classical galactosemia]. Orvosi Hetilap, 158(47), 1864-1867. https://doi.org/10.1556/650.2017.30900
Kiss E, Balogh L, Reismann P. [Diet Treatment of Classical Galactosemia]. Orv Hetil. 2017;158(47):1864-1867. PubMed PMID: 29153024.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Diet treatment of classical galactosemia]. AU - Kiss,Erika, AU - Balogh,Lídia, AU - Reismann,Péter, PY - 2017/11/21/entrez PY - 2017/11/21/pubmed PY - 2017/12/28/medline KW - diet KW - diéta KW - galactosaemia KW - galactosemia KW - inborn errors of metabolism KW - lactose KW - laktóz KW - veleszületett anyagcsere-betegség SP - 1864 EP - 1867 JF - Orvosi hetilap JO - Orv Hetil VL - 158 IS - 47 N2 - Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary. Affected newborns are recognized in the first days of their life, and special diet is introduced immediately. The therapy of galactosemia is the lactose-free and galactose-poor diet for life. As a result of the nationwide newborn screening and the lifelong medical therapy, early treatment with galactosemia can achieve a normal life without serious complications. Orv Hetil. 2017; 158(47): 1864-1867. SN - 0030-6002 UR - https://www.unboundmedicine.com/medline/citation/29153024/[Diet_treatment_of_classical_galactosemia]_ L2 - https://akjournals.com/doi/10.1556/650.2017.30900 DB - PRIME DP - Unbound Medicine ER -