Propionic acid, which is upstream in the metabolic pathway of amino acids, may also be elevated in the serum. Neutropenia, anemia, and thrombocytopenia, a result of down-regulation of hematopoietic growth, may also be present during acute episodes of infection or metabolic decompensation. Definitive diagnosis is made by enzyme analysis of fibroblasts in search of the specific enzyme abnormality. Perform blood, imaging and cardiac studies when working up a suspected stroke in a young patient. Rule out the other, various causes of strokes in the pediatric population.
Intracranial hemorrhage can occur, if the metabolic derangement includes a bleeding diathesis.
This measure can be started while the diagnosis is being confirmed. If cobalamin supplementation is not helpful isoleucine, threonine, methionine and valine should be restricted. The acyl-carnitine that is produced by this buffering action is excreted in the urine. In an acute phase, intercurrent infections that triggered an acidotic episode must be identified and treated. Acidosis itself should be corrected, and dialysis may be required for severe ketoacidosis and hyperammonemia.