Amaç & Hipotez:The objectives of the study were to assess folate deficiency in patients withclassic galactosemia, and to determine whether folic acid supplementationhas an effect on galactose-1-phosphate uridyltransferase enzyme activity.Sixty-one newborn infants diagnosed with classic galactosemia between 2010and 2017 were retrospectively evaluated.
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Temel Bulgular & Veri:Within this group, 48 patients withQ188R homozygous mutation alone were enrolled into the study.
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Sonuç & Katkı:The serum folate level was low (
🔬Tür:Araştırma Makalesi
📍Kapsam:2017 Verileri
⚙️Değişkenler:Alan Parametreleri
Abstract
The objectives of the study were to assess folate deficiency in patients withclassic galactosemia, and to determine whether folic acid supplementationhas an effect on galactose-1-phosphate uridyltransferase enzyme activity.Sixty-one newborn infants diagnosed with classic galactosemia between 2010and 2017 were retrospectively evaluated. Within this group, 48 patients withQ188R homozygous mutation alone were enrolled into the study. Serum folateconcentration was studied using chemiluminescence; and in folate deficientpatients, galactose-1-phosphate uridyltransferase measurements before andafter folic acid supplementation (100 mg/day folic acid for 30 days) wereperformed using an enzymatic calorimetric measurement technique based onkinetics. The serum folate level was low (
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Eminoğlu, F. T., Çelik, M., Özgün, N., Tüzün, H., Fidan, M., Akdeniz, O., İpek, M. Ş., Emecan, M. (2022). Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments. Turkish Journal of Pediatrics, Cilt: 60 - Sayı: 5, 540–546. https://ajindex.com/articles/613261
Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol 2005; 33: 153-161
Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis 2017; 40: 325-342
Holton J B. Galactosaemia: pathogenesis and treatment. J Inherit Metab Dis 1996; 19: 3-7
Hughes J, Ryan S, Lambert D, et al. Outcomes of siblings with classical galactosemia. J Pediatr 2009; 154: 721-726
Bosch AM, Bakker HD, Wenniger-Prick LJ, Wanders RJ, Wijburg FA. High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch Dis Child 2014; 89: 1034-1036
Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis 2016; 40:171-176
Batey LA, Welt CK, Rohr F, et al. Skeletal health in adult patients with classic galactosemia. Osteoporos Int 2013; 24: 501-509. 8. van Erven B,Welling L, van Calcar SC, et al. Bone health in classic galactosemia: systematic review and meta-analysis. JIMD Rep 2017; 35: 87-96
Shaw KA, Mulle JG, Epstein MP, Fridovich-Keil JL. Gastrointestinal health in classic galactosemia. JIMD Rep 2017; 33: 27-32
Institute of Medicine. Food and Nutrition Board. Dietary Reference Intakes: Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic Acid, Biotin, and Cholineexternal link disclaimer. Washington, DC, National Academy Press 1998
Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL. Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia. J Inherit Metab Dis 2013; 36: 1049-1061
Spencer JB, Badik JR, Ryan EL, et al. Modifiers of ovarian function in girls and women with classic galactosemia. J Clin Endocrinol Metab 2013; 98: E1257-E1265
Segal S, Rogers S. Regulation of galactose metabolism: implications for therapy. J Inherit Metab Dis 1990; 13: 487-500
U.S. Department of Agriculture Agricultural Research Service. USDA National Nutrient Database for Standard Reference, 2012
Wilson RD, Johnson JA, Wyatt P, et al. Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies. J Obstet Gynaecol Can 2007; 29: 1003-1026