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Outcome of three cases of untreated maternal glutaric aciduria type I

Paula Garcia1, Esmeralda Martins, Luísa Diogo

  • 1Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal.

European Journal of Pediatrics
|July 31, 2007
PubMed

Insights

Untreated glutaric aciduria type I (GA I) in mothers resulted in biochemical abnormalities in newborns. Despite initial neuroimaging findings, all three children showed normal physical and neurological development up to age 5.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Glutaric aciduria type I (GA I) is a rare inherited metabolic disorder.
  • Maternal GA I can impact fetal development and neonatal health.
  • Early identification and management are crucial for affected individuals.

Observation:

  • Three children were born to two mothers with untreated GA I.
  • Neonatal screening identified isolated hypocarnitinemia in one infant, leading to the diagnosis of GA I in his previously undiagnosed mother.
  • Newborn screening in the second infant, born to a diagnosed but untreated mother, reflected the maternal metabolic state.

Findings:

  • Biochemical abnormalities in the infants normalized within one week.
  • Neuroimaging at 4 months revealed Sylvian enlargement in both infants and bilateral temporal arachnoid cysts in one.
  • All three children exhibited normal physical and neurological development at ages 2 and 5 years.

Implications:

  • This study highlights the importance of maternal health screening for metabolic disorders like GA I.
  • Neonatal screening can detect GA I indirectly through maternal metabolic status.
  • Long-term follow-up is essential to fully understand the developmental outcomes for children exposed to GA I in utero.

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