PATIENT WITH MTHFR MUTATION PRESENTING WITH TINGLING AND CRACKING IN THE TONGUE: CASE PRESENTATION

Öz

A 17-year-old male patient presented with complaints of tingling and cracks on the tongue. Except for geographical tongue, the physical examination of the patient was entirely normal. His growth and development were also normal. Laboratory investigations including complete blood count and routine biochemistry tests were within normal limits. B12 level was normal, while folate level was slightly low, and homocysteine level was found to be high. Advanced investigations aiming to determine the etiology revealed a homozygous mutation in the MTHFR gene, and treatment was initiated. The patient received folate, B12, and betaine therapy. It was observed that homocysteine levels gradually decreased with the treatment. Oral lesions such as tongue sores and geographical tongue due to B vitamin deficiencies are common considerations in pediatric practice. However, in cases of persistent high homocysteine levels despite treatment, homocystinuria and MTHFR mutation should also be taken into account in the etiology.

Anahtar Kelimeler

• high homocysteine level
• MTHFR mutation
• geographic tongue

DİLDE UYUŞMA VE ÇATLAK ŞİKÂYETLERİ İLE BAŞVURAN MTHFR MUTASYONU SAPTANAN HASTA: VAKA SUNUMU

Öz

17 yaş erkek hasta dilde uyuşma ve dilinde çatlaklar şikayeti ile başvurdu. Hastanın fizik muayenesi harita dili olması dışında tamamanen normaldi. büyümesi ve gelişmesi normaldi. Yapılan labaratuvar incelelemelerinde tam kan sayımı ve rütin biyokimya testleri normaldi. B12 düzeyi normal , folik asit hafif düşük saptandı ve homosistein düzeyi yüksek olarak saptandı. Hastada etiyolojiye yönelik yapılan ileri incelemerde MTHFR geninde homozigot mutasyon tespit edildi ve tedavi başlandı. Hastaya folik asit , B12 ve betain tedavisi verildi. Tedavi ile homosistein düzeyinin kademeli düştüğü gözlemlendi. Dilde yara, harita dili gibi oral lezyonlarda B vitamini eksiklikleri pediatri pratiğinde sık akla gelen nedenlerdendir. Ancak tedavi ile düzelmeyen homosistein yüksekliğinde homosistinüri ve MTHFR mutasyonu da etiyolojide akılda bulundurulmalıdır.

Anahtar Kelimeler

• HOMOSİSTEİN YÜKSEKLİĞİ
• MTHFR mutasyonu
• harita dili

Kaynakça

1. Rosenblatt DS. Methylenetetrahydrofolate reductase. Clin Invest Med, 2001;24:56-59.
2. Homberger G, Linnebank M, Winter C, et al. Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. Eur J Hum Genet, 2000;8:725-729.
3. Selhub J. Homocysteine metabolism. Annual review of nutrition, 1999;19(1):217-246.
4. Friedman G, Goldschmidt N, Friedlander Y, et al. Common mutation A1298C in human methylenetetrahydrofolate reductase gene: Association with plasma total homocysteine and folate concentrations. J Nutr, 1999;129:656-1661. 10.
5. Goyette P, Rozen R. The thermolabile variant 677CT can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase. Hum Mutat, 2000; 16:132-138.
6. Finkelstein J D: The metabolism of homocysteine: pathways and regulation. E ur J Pediatr, 1998; 157 (suppl 2): S40-4.
7. Nygard O, Nordrehaug JE, Refsum H, Ueland PM, Farstad M, Vollset SE: Plasma homocysteine levels and mortality in patients with coronary artery disease. N Engl J Med, 1997;337:230-236.
8. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG: A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. JAMA, 1995;274:1049-1057.

9. Miller JW, Nadeau MR, Smith D, Selhub J: Vitamin B6 deficiency vs folate deficiency: comparison of responses to methionine loading in rats. Am J Clin Nutr, 1994;59:1033-1039.
10. Mudd SH, Levy HL, Skovby F: Disorders of transsulfuration. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic Basis of Inherited Disease, 6th edn. New York, 1989;693–734.
11. Frosst P, Blom HJ, Milos R et al: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet, 1995;10:111–113.
12. Lowering blood homocysteine with folic acid based supplements: meta-analysis of randomised trials. Homocysteine Lowering Trialists' Collaboration. BMJ, 1998;316:894-898.
13. Andreotti F, Burzotta F, Manzoli A, Robinson K. Homocysteine and risk of cardiovascular disease. J Thromb Thrombolysis, 2000;9:13-21.
14. Pehlivan A, Erduran E, Bahadır A, Reis GP. 6-18 Yaş Arası Çocuklarda Nütrisyonel Vitamin B 12 Eksikliğinde Oral Kobalamin Tedavisinin Etkinliğinin Retrospektif Değerlendirilmesi. Turkiye Klinikleri Journal of Pediatrics, 2023;32(1).