| A Case of Methylmalonic Acidemia. |
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Jong Hoon Park, Si Houn Hahn, Kee Hwan Yoo, Kwang Chul Lee, Chang Sung Sohn, Pyung Hwa Choe |
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Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea |
| 메틸 말로닌산혈증 1례 |
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박종훈, 한시훈, 유기환, 이광철, 손창성, 최평화 |
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고려대학교 의과대학 소아과학교실 |
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Received: 1 December 1988 • Accepted: 21 December 1988 |
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| Abstract |
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Methylmalonic acidemia is an inborn error of metabolism, which is characterized by excretion of large amount of
methylmalonate, and is transmitted as an autosomal recessive traits. The clinical symptoms begin in early life and
are recurrent vomiting, lethargy, dehydration, failure to thrive. Laboratory findings show ketosis, metabolic acidosis,
methymalonic aciduria with normal serum cobalamin level, hyperammonemia, pancytopenia. Two treatment regi-
mens exist and should be employed immediately:one is restriction of protein diet and the other is cobalamin injection.
We experienced a 6 month old female with recurrent vomiting and dehydration with metabloic acidosis, hyperam-
monemia, who was diagnosed as methylmalonic acidemia by NMR spectrometry.
A brief review of literature was made. |
| Key Words:
Organic acidemia, Metabolic acidosis, Hyperammonemia, Pancytopenia, Methylmalonic acidemia |
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