Korean J Pediatr Gastroenterol Nutr.  2001 Sep;4(2):249-255.

A Case of Methylmalonic Acidemia in a 6-month-old Infant

• Cho SJ
• Rho YI
• Moon KR

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.

Keyword

Methylmalonic acidemia

MeSH Terms

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
Cholesterol
Fatty Acids
Isoleucine
Leucine
Methionine
Methylmalonic Acid
Threonine
Valine
Vitamins