Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1640293.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.
Medical subject headings
- Acidosis, Lactic
- Ketoglutarate Dehydrogenase Complex