Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect

J Inherit Metab Dis. 1997 Nov;20(6):835-6. doi: 10.1023/a:1005340322558.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Ammonia / blood
  • Cardiomyopathy, Dilated / etiology
  • Electron Transport*
  • Fatal Outcome
  • Female
  • Humans
  • Hypoglycemia / etiology
  • Infant, Newborn
  • Ketones / urine
  • Lactic Acid / blood
  • Lactic Acid / urine
  • Male
  • Mitochondrial Trifunctional Protein
  • Multienzyme Complexes / deficiency*
  • Netherlands
  • Turkey / ethnology

Substances

  • Ketones
  • Multienzyme Complexes
  • Lactic Acid
  • Ammonia
  • Mitochondrial Trifunctional Protein