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Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome
O N Elpeleg1, W Ruitenbeek, C Jakobs
1Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
Insights
Lipoamide dehydrogenase deficiency, a rare metabolic disorder, can cause severe symptoms from birth. Early treatment with sodium dichloroacetate, thiamine, and carnitine significantly improved patient outcomes.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Genetics
Background:
- Lipoamide dehydrogenase (LPDH) deficiency is an inherited metabolic disorder affecting mitochondrial energy production.
- It can lead to severe neurological and metabolic complications, including lactic acidemia and ketoacidemia.
Observation:
- A 5-year-old boy presented with recurrent vomiting, lethargy, lactic acidemia, and ketoacidemia since birth.
- LPDH deficiency was confirmed through biochemical analysis of muscle and fibroblast samples.
Findings:
- Treatment with sodium dichloroacetate, thiamine, and carnitine led to a reduction in the severity and frequency of decompensation episodes.
- Near-normal plasma lactate levels were achieved, and the patient maintained normal cognitive function with moderate motor impairment at age 5.
Implications:
- This case highlights the potential benefits of early therapeutic intervention for LPDH deficiency.
- Combined therapy may mitigate severe metabolic crises and support neurodevelopmental outcomes in affected children.
Abstract:
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels. At 5 years of age, the patient has normal cognitive function and moderate motor impairment.