A sick child laboratory test reveal low white blood count,metabolic acidosis,increased anion gap,mild hyperammonemia.Measurements of plasma amino acids reveal elevated glycine and measurement of urinary organic acids reveals increased amounts of propionic acid and methyl citrate. which of the following processes is most likely?
Correct Answer: Propionic acidemia
Description: Propionic acidemia- Block of propionyl co A carboxylase Increased propionic acid Decreased bicarbonate Increased anion gap Glycine is secondarily elevated but no catabolic defect of glycine Reference: Harpers illustrated biochemistry 30th edition
Category:
Biochemistry
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