The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 2
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment
Çiğdem Seher Kasapkara 1-5 ,Ebru Yılmaz-Keskin 2 ,Ferda Özbay-Hoşnut 3 ,Meltem Akçaboy 4 ,Emine Polat 4 ,Asburçe Olgaç 1 ,Pelin Zorlu 4
1 Departments of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children’s Training and Research Hospital, Ankara
2 Department of Pediatric Hematology and Oncology, Süleyman Demirel University School of Medicine, Isparta
3 Departments of Pediatric Gastroenterology, Dr. Sami Ulus Maternity and Children’s Training and Research Hospital, Ankara
4 Clinic of Pediatrics, Dr. Sami Ulus Maternity and Children’s Training and Research Hospital, Ankara
5 Department of Pediatrics, Yıldırım Beyazıt University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2019.02.021 Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285.

Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively. Deficiency of methionine synthase activity may result in megaloblastic anemia without methylmalonic aciduria and neuromuscular abnormality of varying severity. Delayed milestones, ataxia, cerebral atrophy, muscular hypotonia, neonatal seizures, and blindness have been reported as the associated clinical findings. Early diagnosis and treatment are crucial for a more favorable diagnosis of the affected cases. Herein we report a three-month-old boy with CblG disease who presented with failure to thrive, chronic diarrhea, feeding intolerance, oral ulcers, microcephaly and hypotonia, and showed a dramatic response to treatment. In the first few months of life, megaloblastic anemia accompanied by apparent neurological involvement should direct physicians to order examinations like measurement of total homocysteine and methylmalonic acid levels to detect possible forms of inherited Cbl intracellular metabolism disorders. Keywords : cobalamin, homocysteine, methionine, megaloblastic anemia

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