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Organic Acidemia Disorders

  • Methylmalonic acidemia
  • Propionic acidemia
  • Isovaleric acidemia
  • Glutaric acidemia Type I
  • 3-Hydroxy-3-methylglutaryl CoA Lyase deficiency
  • 3-Methylcrotonyl-CoA Carboxylase deficiency

Description – Organic acidemias are a class of inherited metabolic disorders that lead to the accumulation of organic acids in blood and urine.  While a family history of neonatal death should prompt consideration of organic acidemia, a negative family history does not exclude the possibility.

Clinical Features – Clinical symptoms may include vomiting, metabolic acidosis, ketosis, dehydration, coma, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis and hematologic disorders.  The non-distinct clinical presentation may initially be attributed to sepsis, poor breast-feeding or neonatal asphyxia.  Outcome is enhanced by diagnosis in the first ten days of life.

Treatment – Treatment options include low protein diets, carnitine or vitamin supplementation and avoidance of fasting.  For treatment of all organic acidemia disorders, consultation with a metabolic specialist is strongly recommended.



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Last Modified: Monday, 28-Jul-14 09:35:02