Outcome of three cases of untreated maternal glutaric aciduria type I

Eur J Pediatr. 2008 May;167(5):569-73. doi: 10.1007/s00431-007-0556-2. Epub 2007 Jul 28.

Abstract

We report, for the first time, the outcome of three children born to two women with untreated glutaric aciduria type I (GA I). Isolated hypocarnitinemia in neonatal screening in one baby allowed the identification of the disease in his mother, who was undiagnosed so far and had had a previous daughter. The other baby was born to an already diagnosed mother who was not treated; newborn screening in the child reflected the metabolic state of the mother. Biochemical abnormalities returned to normal within one week. At the age of 4 months, neuroimaging showed Sylvian enlargement in both infants and bilateral temporal arachnoid cysts in one. Physical and neurological developments were normal for the three patients at ages 2 and 5 years. We conclude that long-term follow up will determine the true impact of GA I in such children.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arachnoid Cysts / diagnosis
  • Arachnoid Cysts / etiology*
  • Brain / pathology
  • DNA / genetics
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase / genetics
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / urine
  • Mutation
  • Time Factors

Substances

  • Glutarates
  • DNA
  • Glutaryl-CoA Dehydrogenase
  • glutaric acid