Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Çelik M, Özgün N, Akdeniz O, Fidan M, Tüzün H, Ipek MS, Emecan M, Eminoglu FT. Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments. Turk J Pediatr 2018; 60: 540-546. The objectives of the study were to assess folate deficiency in patients with classic galactosemia, and to determine whether folic acid supplementation has an effect on galactose-1-phosphate uridyltransferase enzyme activity. Sixty-one newborn infants diagnosed with classic galactosemia between 2010 and 2017 were retrospectively evaluated. Within this group, 48 patients with Q188R homozygous mutation alone were enrolled into the study. Serum folate concentration was studied using chemiluminescence; and in folate deficient patients, galactose-1-phosphate uridyltransferase measurements before and after folic acid supplementation (100 mg/day folic acid for 30 days) were performed using an enzymatic calorimetric measurement technique based on kinetics. The serum folate level was low ( < 4 ng/ml) in 12 patients (25%). The galactose-1-phosphate uridyltransferase enzyme activity after folic acid supplementation was significantly higher than the values before folic acid supplementation (1.00±0.19 U/g Hb vs. 0.74±0.23 U/g Hb, p < 0.05); but was still less than the normal levels. Folate deficiency, most likely due to poor dietary intake, may develop in pediatric patients with classical galactosemia, and folic acid should be supplemented. Folic acid supplementation appears to have a low, but statistically significant, effect on galactose-1-phosphate uridyltransferase enzyme activity, but comprehensive research is needed to clarify whether there is any clinical significance.

[A retrospective investigation of clinical and laboratory findings in children with acute rheumatic fever, reactivation and compliance with prophylaxis]. / Akut romatizmal atesli çocuklarda klinik ve laboratuvar bulgularin geriye dönük olarak incelenmesi: Reaktivasyon ve koruyucu tedaviye uyumunun arastirilmasi

OBJECTIVES: We aimed to retrospectively investigate the patients with acute rheumatic fever (ARF) by evaluating their clinic and laboratory properties, echocardiographic findings as well as the reactivation and the compliance to penicillin prophylaxis. STUDY DESIGN: The study involved 255 patients (143 boys, 112 girls; mean age 10.1±2.7 years) with ARF. Their sex, age, clinic and laboratory properties, echocardiographic findings, the reactivation and the compliance to penicillin prophylaxis were recorded. RESULTS: Patients spent 13.3±4.3 days in the hospital, and 94 had a history of ARF. Arthritis was found in 233 patients, carditis in 166, Sydenham's chorea in 14, subcutaneous nodule in 2, and arthritis-carditis in 151 patients. Erythema marjinatum was not found in any patient. Arthralgia (n=15) and fever (n=246) were found in patients. Throat culture was positive in 94 patients and anti-streptolysin-O titers were high in 124 patients. Mitral involvement was found in 205 patients while the combination of mitral and aortic valve involvement were observed in 118 patients. CONCLUSION: ARF still continues to be a major public health problem in our country. A bad prognosis may be prevented by early diagnosis and treatment. The importance of appropriate prophylaxis should also be emphasized.