Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria

J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780.

Authors

E Mayatepek¹, R J Wanders, M Becker, H J Bremer, G F Hoffmann

Affiliation

¹ Department of Pediatrics, University of Heidelberg, Germany.

PMID: 7564260
DOI: 10.1007/BF00711780

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / deficiency
3-Hydroxyacyl CoA Dehydrogenases / metabolism
Cells, Cultured
Dicarboxylic Acids / urine*
Electron Transport
Fatal Outcome
Fatty Acids / metabolism
Female
Fibroblasts / enzymology
Fibroblasts / metabolism
Humans
Hydroxy Acids / urine*
Hypoglycemia / complications*
Infant
Lipid Metabolism, Inborn Errors / diagnosis*
Lipid Metabolism, Inborn Errors / enzymology
Lipid Metabolism, Inborn Errors / urine
Mitochondria / enzymology*
Oxidation-Reduction

Substances

Dicarboxylic Acids
Fatty Acids
Hydroxy Acids
3-Hydroxyacyl CoA Dehydrogenases