Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome

Am J Med Genet. 1988 Aug;30(4):865-73. doi: 10.1002/ajmg.1320300402.

Abstract

We describe a similar metabolic pattern of hyperketosis, ketonaciduria, and C6-C12 dicarboxylic aciduria in a patient with the Silver-Russell syndrome and a patient with the Brachmann-de Lange syndrome. Fasting blood levels of beta-hydroxybutyrate and acetoacetate were significantly higher than in age-matched controls, and both patients showed massive urinary excretion of beta-hydroxybutyrate, acetoacetate and C6-C12 dicarboxylic acids.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxybutyric Acid
  • Acetoacetates / metabolism
  • Dicarboxylic Acids / urine
  • Facial Bones / abnormalities
  • Fatty Acids / metabolism*
  • Female
  • Fetal Growth Retardation / genetics
  • Fetal Growth Retardation / metabolism*
  • Humans
  • Hydroxybutyrates / metabolism
  • Infant
  • Male
  • Pregnancy
  • Skull / abnormalities
  • Syndrome

Substances

  • Acetoacetates
  • Dicarboxylic Acids
  • Fatty Acids
  • Hydroxybutyrates
  • acetoacetic acid
  • 3-Hydroxybutyric Acid