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Outcome of three cases of untreated maternal glutaric aciduria type I

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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.

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Abbreviations

GA I:

Glutaric aciduria type I

C0:

Free carnitine

GCDH:

Glutaryl-CoA dehydrogenase

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Acknowledgments

The authors are grateful to F. M. Santorelli, MD, PhD, for the careful reading of the manuscript and E. Christensen, PhD, Copenhagen, Denmark, for performing the enzymatic study.

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Authors and Affiliations

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

    Paula Garcia, Luísa Diogo, Margarida Almeida & Catarina Vaz

  2. Hospital de Crianças Maria Pia, R. Boavista, 827 4050, Porto, Portugal

    Esmeralda Martins & Clara Barbot

  3. Instituto de Genética Médica Jacinto de Magalhães, Laboratório Nacional de Rastreios, Praça Pedro Nunes, 88, 4099-028, Porto, Portugal

    Hugo Rocha, Ana Marcão & Laura Vilarinho

  4. Centro Hospitalar de Vila Real, 5000, Lordelo, Vila Real, Portugal

    Eurico Gaspar & Isabel Soares

Authors
  1. Paula Garcia
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  2. Esmeralda Martins
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  3. Luísa Diogo
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  4. Hugo Rocha
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  5. Ana Marcão
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  6. Eurico Gaspar
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  7. Margarida Almeida
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  8. Catarina Vaz
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  9. Isabel Soares
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  10. Clara Barbot
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  11. Laura Vilarinho
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Corresponding author

Correspondence to Laura Vilarinho.

Additional information

Paula Garcia and Esmeralda Martins contributed equally to this work.

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Garcia, P., Martins, E., Diogo, L. et al. Outcome of three cases of untreated maternal glutaric aciduria type I. Eur J Pediatr 167, 569–573 (2008). https://doi.org/10.1007/s00431-007-0556-2

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  • DOI: https://doi.org/10.1007/s00431-007-0556-2

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