A Newborn with Methylmalonic Acidemia Accompanied by Extremely High Ammonia Levels
نویسندگان
چکیده
Most organic acidemias become clinically apparent during neonatal period or early infancy. Infants typically have severe metabolic acidosis with increased anion gap, ketosis and hyperammonemia. Extremely high ammonia levels exceeding 1000 μmol/L is a discriminative feature for urea cycle defect while levels exceeding 200-300 μmol/L are rarely encountered in other reasons of hyperammonemia. Lethargy developed in a boy with extremely high ammonia levels (3693 μmol/L) on the postnatal day 3. Higher extremes in ammonia are mainly observed in urea cycle defects. We presented this case which was diagnosed as methylmalonic acidemia by specific tests to emphasize that extremely high ammonia levels can be seen in organic acidemias.
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