Abstract
Lactic acidosis and accumulation of 3-hy-droxybutyrate and other citric acid cycle intermediates were found in an infant with a lethal syndrome of metabolic acidosis and renal tubular acidosis. Nevertheless, the patient was relatively well for 4 mo of life. The activity of the pyruvate dehydrogenase complex, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase were all reduced to levels 9 to 29% of control. In contrast, the activity of lipoamide dehydrogenase was normal. The conversion of l-14C-leucine and l-I4C-valine to 14C02 and of U-L-I4C-valine to its major metabolic product 3-hydrox-yisobutyric acid by fibroblasts derived from the patient was less than 5% of control. Cultivation of the patient's fibroblasts in medium enriched with lipoic acid markedly improved these in vitro conversions of leucine and valine.
Original language | English (US) |
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Pages (from-to) | 75-79 |
Number of pages | 5 |
Journal | Pediatric Research |
Volume | 27 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1990 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health