Natural history of three late-diagnosed classic Galactosemia patients

Dulce Quelhas; Sandra D K Kingma; An I Jonckheere; Claudia S Smeets-Peels; Daniel Costa Gomes; José Duro; Anabela Oliveira; Gert Matthijs; Laura K M Steinbusch; Jaak Jaeken; Isabel Rivera; Estela Rubio-Gozalbo

doi:10.1016/j.ymgmr.2024.101057

Natural history of three late-diagnosed classic Galactosemia patients

Mol Genet Metab Rep. 2024 Jan 23:38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar.

Authors

Dulce Quelhas^{1

2

3}, Sandra D K Kingma^{4

5}, An I Jonckheere⁵, Claudia S Smeets-Peels⁶, Daniel Costa Gomes⁷, José Duro⁷, Anabela Oliveira⁷, Gert Matthijs⁸, Laura K M Steinbusch⁹, Jaak Jaeken¹⁰, Isabel Rivera¹¹, Estela Rubio-Gozalbo^{4

9}

Affiliations

¹ Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
² Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.
³ Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
⁴ Mosakids Children's Hospital, Maastricht University Medical Center, Maastricht, the Netherlands.
⁵ Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium.
⁶ Stichting Pergamijn, Sittard, the Netherlands.
⁷ Centro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
⁸ Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
⁹ Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
¹⁰ Department of Development and Regeneration, Woman and Child Unit, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
¹¹ Research Institute for Medicines (iMed.ULisboa), Department of Pharmaceutical Sciences and Medicines, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal.

Abstract

The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.

Keywords: Classic galactosemia; Late diagnosis; Natural history.