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Primary treatment of propionic acidemia complicated by acute thiamine deficiency
D Matern1, H H Seydewitz, W Lehnert
1Department of Pediatrics, Albert-Ludwigs-University, Freiburg, Germany.
Insights
Propionic acidemia can cause severe lactic acidosis due to thiamine deficiency during metabolic stress. Early vitamin supplementation is crucial for infants with metabolic decompensation and poor food intake to prevent thiamine deficiency.
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Propionic acidemia is a metabolic disorder typically presenting in neonates with symptoms like vomiting, lethargy, and hyperammonemic coma.
- Metabolic decompensation in propionic acidemia is often accompanied by mild lactic acidosis.
- Thiamine deficiency can exacerbate metabolic stress and lead to severe lactic acidosis.
Abstract:
Propionic acidemia is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged. Mild lactic acidosis frequently accompanies metabolic decompensation. We present two patients with propionic acidemia whose initial manifestation was complicated by severe lactic acidosis caused by thiamine deficiency, which resulted from an inadequate supply of, and an increased need for, thiamine during metabolic stress. To prevent acute thiamine deficiency, we propose early vitamin supplementation during treatment of any severe metabolic decompensation accompanied by insufficient food intake.