11. Fatal congenital lactic acidosis in two siblings
| Autor: | S O Lie, S Skride, J H Strømme |
|---|---|
| Rok vydání: | 1971 |
| Předmět: |
medicine.medical_specialty
Glycogen business.industry Metabolic acidosis Metabolism Congenital lactic acidosis medicine.disease Lactic acid chemistry.chemical_compound Endocrinology chemistry Biochemistry Internal medicine Pediatrics Perinatology and Child Health medicine Hyperlactatemia Chronic lactic acidosis medicine.symptom business Acidosis |
| Zdroj: | Pediatric Research. 5:85-85 |
| ISSN: | 1530-0447 0031-3998 |
| Popis: | Chronic lactic acidosis has been described in children. We have studied two siblings who developed a severe metabolic acidosis during the 2nd day of life. Lactic acid levels of 88-108 mg 100 ml blood were found. The children were severely affected, and the disease showed a malignant course with death at the ages of 97 and 177 hr. In vivo as well as in vitro studies were carried out in the second sibling in an attempt to localize the metabolic defect. Metabolism of lactate was detemined by injecting lactate-214C intravenously. Postmortem examinations included determinations of liver and muscle glycogen, LDH-isoenzymes, the metabolism of radioactive lactate and pyruvate in liver and muscle slices and in isolated mitochondria. The studies indicated that the hyperlactatemia was due to an abnormally slow metabolism of lactate and not to a high production. The rate of oxidation was normal. Very low concentration of glycogen was found in liver and muscle. The incorportation of 11C-lactate into blood glucose and glycogen was insignificant in vitro as well as in vivo. These results are compatible with a reduced gluconcogenesis from lactate in out patient, reuslting in a serve accumulation of lactate and a fatal acidosis. |
| Databáze: | OpenAIRE |
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