A Case of Methylmalonic Acidemia in a 6-month-old Infant.
- Author:
Sung Jong CHO
1
;
Young Il RHO
;
Kyung Rye MOON
Author Information
1. Department of Pediatrics, College of Medicine, Chosun University, Gwangju, Korea. krmoon@mail.chosun.ac.kr
- Publication Type:Case Report
- Keywords:
Methylmalonic acidemia
- MeSH:
Acidosis;
Ambulatory Care Facilities;
Body Weight;
Cholesterol;
Chromatography, Gas;
Failure to Thrive;
Fatty Acids;
Follow-Up Studies;
Head;
Humans;
Hyperammonemia;
Infant*;
Isoleucine;
Lethargy;
Leucine;
Mass Spectrometry;
Metabolic Diseases;
Methionine;
Methylmalonic Acid;
Milk;
Muscle Strength;
Plasma;
Threonine;
Valine;
Vitamins;
Vomiting
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2001;4(2):249-255
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Methylmalonic acidemia is a rare congenital autosomal recessive metabolic disease. It is caused by blocking in the pathways of isoleucine, valine, threonine, methionine, cholesterol and odd-chain fatty acids to succinyl CoA, resulting in the increase of L-methylmalonyl CoA and methylmalonic acid. In most cases, there are symptoms such as recurrent vomitings, lethargy and laboratory abnormalities including metabolic acidosis and hyperammonemia from the neonatal period. We had a 6-month-old infant with methylmalonyl acidemia who presented with recurrent vomiting episodes since 3 months of age, failure to thrive and developmental delay. The laboratory findings showed hyperammoninemia and ketotic metabolic acidosis. Plasma amino acid analysis showed nonspecific finding. Urine organic acid ananysis by gas chromatography and mass spectrometry detected large amount of methylmalonic acid excreted in the urine. We restrained the supply of protein in the amount of 1~1.5 g/kg of body weight a day using leucine, isoleucine and valine-r-estrained milk and administered vitamine B12, in the amount of 1mg per day. During the follow-up in the outpatient clinic, He could control his head and showed increased muscle strength.
