| A Case of Methylmalonic Acidemia. |
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Hyung Ro Moon, Hae Rim Jung, Mi Ryung Um |
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Department of Pediatrics, College of Medicine, Seoul National University, Korea |
| 메틸 말로닐산혈증 1 례 |
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문 형 로, 정 혜 림, 엄 미 령 |
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서울대학교 의과대학 소아과학교실 |
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| Abstract |
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Methylmalonic acidemia is an inborn error of metabolsim, transmitted as an autosomal recessive traits.
Symptoms begin early in life and they are pernicious vomiting, lethargy, hepatomegaly, and failure
to thrive. Laboratory finidngs are ketosis, intermittent hyperglycinemia, and methymalonic aciduria
without vitamin B12 deficiency.
Six distinct subtypes of this disorders have been characterized.
Some of them respond well to exogenous vitamin B12 therapy.
We have experienced a case of vitamin B12 responsive methylmalonic acidemia in a 6 month old girl
who complained of recurrent vomiting and dehydration.
Diagnosis was made by her clinical and laboratory features.
The case was presented with brief review of literatures.
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| Key Words:
Methylmalonic Acidemia.
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