Methylmalonic acidemia is a metabolic disorder of amino acid and fatty acid metabolism. A Female infant, who was diagnosed as methylmalonic acidemia based on findings; methylmalonic aciduria, metabolic acidosis with increased anion gap,
hyper-ammonemia,
has been followed up for 9 months. She has been placed on the planned diet according to Ross metabolic formula nutrition support protocol. The diet is composed of protein 2.0g/kg/day, ILE 80mg/kg/day, MET 30mg/kg/day, THR 75mg/kg/day, VAL
85mg/kg/day
and total calorie 115Cal/kg/day with the distribution of protein: carbohydrate: fat=1: 4: 5. The practical dietary prescription consisted of whole milk 8.6g, OS-1 2.1g, glucose 7.1g, rice 3.6g and vegetable oil 0.7ml per each 100ml of liquid
diet,
After
the administration of specially prescribed amino acid mixture, OS-1, her body weight caught up from less than 3 percentile at 3 month to 50 percentile at 9month. Plasma levels of amino acids, ILE, MET, THR, VAL were maintained within normal
values.
However, her development lagged 3-4 months behind the developmental milestones appropriate for her chronological age. The plasma ammonia and bicarbonate levels were normalized. The urinary excretion of methylmalonic acid has been markedly
decreased
during follow-up.
We could maintain the patient,s growth and biochemical indices within normal range by prescribing specially made amino acid mixture. However, the development seemed to be delayed inspite of strict metabolic controls, it indicating that further
long
term
follow-up is needed.
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