3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine

J Pediatr. 1979 Dec;95(6):1004-7. doi: 10.1016/s0022-3476(79)80297-8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyl Coenzyme A
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Amino Acid Metabolism, Inborn Errors / urine*
  • Female
  • Humans
  • Hypoglycemia / etiology
  • Infant, Newborn
  • Leukocytes / enzymology
  • Male
  • Meglutol
  • Oxo-Acid-Lyases / blood
  • Oxo-Acid-Lyases / deficiency*
  • Oxo-Acid-Lyases / urine
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Acyl Coenzyme A
  • Meglutol
  • Oxo-Acid-Lyases