"VOMIT" Pathway and Disorders - CRASH! Medical Review Series

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On Regards to Organic Acidemias due to Metabolic Enzymatic Deficiency (Autosomal Recessive Inheritance), the VOMIT Pathway comes to mind where Valine, Odd Chain Fatty Acids, Methionine, Isoleucine and Threonine can not be Metabolized or Transaminated to Succinyl Coenzyme A because of deficiency of Propionyl Coenzyme A Carboxylase (if Biotin Deficiency if Ruled out), Methylmalonyl Coenzyme A Mutase (if Cyanocobalamine Deficiency is Absent) and Branched Chain Alpha Ketoacid Dehydrogenase (if Vitamin B9 Deficiency is Absent) causing the following pathologies of Propionic Acidemia, Methymalonyl Acidemia and Maple Syrup Urine Disease (MSUD) respectively. The Signs and Symptoms are poor Feeding in a Neonate (Often Anemic), Vomiting, Lethargy, Hypotonia, Seizures, Hepatomegaly and Neutropenia with Laboratory Finding of Elevated Propionyl Coenzyme A Elevation and Methylmalonyl Coenzyme A Low, Hyperammonemia and Anion Gap Metabolic Acidosis for Proprionic Acidemia (PA) Anemia and a Neutropenia can be present. Treatment is Restriction of Valine Odd Chain Fatty Acids, Methionine Isoleucine, and Threonine with Biotin Supplementation. In Methylmalonic Acidemia (MA), Symptomatology is identical to PA with Methymalonyl Coenzyme A Elevation with possible Anemia (if not Pancytopenia), Hyperammonemia and Anion Gap Metabolic Acidosis (AGMA) and Treatments focuses in identical restrictions with Cobalamine Supplementation (Vitamin B12). In Maple Urine Syrup Disease (MSUD) a characteristic Sweet Urine Odor or Ear Wax (Excluding Diabetic Ketoacidosis) is diagnostic with CNS Defects and consequential Intellectual Disability. Amino Acid Isoleucine, Leucine, and Valine will be Elevated with Anion Gap Metabolic Acidosis and rarely Hyperammonemia (Urea Cycle is Excluded), where Treatment is Restricton of Isoleucine, Leucine and Valine with Thiamine (Vitamin B1) Supplementation. Goodness gracious! I have just delivered a sweet smelling cyanotic and lethargic Neonate. All is Good however. MD Paul Bolin, es geht gut auch.