Mitochondrial electron transport chain defect presenting as hypoglycemia
| Autor: | David R. Thorburn, Judith Hammond, K.Ramananda Kamath, Xenia Dennett, John Christodoulou, Denise M. Kirby, Mary-Louise Freckmann |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
medicine.medical_specialty
Mitochondria Liver Deafness Mitochondrion Hypoglycemia Electron Transport Electron Transport Complex III chemistry.chemical_compound Multienzyme Complexes Internal medicine NAD(P)H Dehydrogenase (Quinone) Humans Medicine Beta oxidation Acidosis Glycogen business.industry Electron Transport Complex II Infant Newborn food and beverages Skeletal muscle Metabolic acidosis medicine.disease Mitochondria Muscle Succinate Dehydrogenase Endocrinology medicine.anatomical_structure chemistry Lactic acidosis Pediatrics Perinatology and Child Health Acidosis Lactic Female medicine.symptom Oxidoreductases business |
| Zdroj: | The Journal of Pediatrics. 130:431-436 |
| ISSN: | 0022-3476 |
| Popis: | A profoundly deaf female infant was found to have hypoglycemia and lactic acidemia after an episode of decreased oral intake and vomiting. Electron transport chain (ETC) enzyme studies revealed a combination defect of complexes I, III, and IV in liver but not in skeletal muscle. This case highlights the fact that defects of the ETC are clinically highly heterogeneous and should be considered with hypoglycemia and lactic acidosis in the absence of a glycogen storage disorder. Moreover, ETC defects can occur with a biochemical profile suggestive of a fatty acid oxidation disorder. |
| Databáze: | OpenAIRE |
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