An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment
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 r...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2019-04-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/688 |
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| author | Çiğdem Seher Kasapkara Ebru Yılmaz-Keskin Ferda Özbay-Hoşnut Meltem Akçaboy Emine Polat Asburçe Olgaç Pelin Zorlu |
| author_facet | Çiğdem Seher Kasapkara Ebru Yılmaz-Keskin Ferda Özbay-Hoşnut Meltem Akçaboy Emine Polat Asburçe Olgaç Pelin Zorlu |
| author_sort | Çiğdem Seher Kasapkara |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-60988cecedae465695f2c47a1b910ca5 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-60988cecedae465695f2c47a1b910ca52025-08-20T03:01:10ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-04-0161210.24953/turkjped.2019.02.021An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatmentÇiğdem Seher KasapkaraEbru Yılmaz-Keskin0Ferda Özbay-Hoşnut1Meltem Akçaboy2Emine Polat3Asburçe Olgaç4Pelin Zorlu5Department of Pediatric Hematology and Oncology, Süleyman Demirel University School of Medicine, Isparta.Departments of Pediatric Gastroenterology, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara.Clinic of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara.Clinic of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara.Departments of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara.Clinic of Pediatrics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara. 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. https://turkjpediatr.org/article/view/688cobalaminhomocysteinemegaloblastic anemiamethionine |
| spellingShingle | Çiğdem Seher Kasapkara Ebru Yılmaz-Keskin Ferda Özbay-Hoşnut Meltem Akçaboy Emine Polat Asburçe Olgaç Pelin Zorlu An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment The Turkish Journal of Pediatrics cobalamin homocysteine megaloblastic anemia methionine |
| title | An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment |
| title_full | An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment |
| title_fullStr | An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment |
| title_full_unstemmed | An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment |
| title_short | An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment |
| title_sort | infant with an extremely rare cobalamin disorder methionine synthase deficiency and importance of early diagnosis and treatment |
| topic | cobalamin homocysteine megaloblastic anemia methionine |
| url | https://turkjpediatr.org/article/view/688 |
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