[A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death]

Zhonghua Er Ke Za Zhi. 2014 May;52(5):397-9.
[Article in Chinese]
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Death, Sudden / etiology
  • Hereditary Central Nervous System Demyelinating Diseases / diagnosis
  • Hereditary Central Nervous System Demyelinating Diseases / etiology
  • Humans
  • Hydroxymethylglutaryl-CoA Synthase / deficiency*
  • Infant, Newborn
  • Male
  • Mutation
  • Oxo-Acid-Lyases / genetics*
  • Spectrometry, Mass, Electrospray Ionization
  • Tandem Mass Spectrometry

Substances

  • Hydroxymethylglutaryl-CoA Synthase
  • Oxo-Acid-Lyases
  • 3-hydroxy-3-methylglutaryl-coenzyme A lyase