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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	101057
Journal	Molecular Genetics and Metabolism Reports
Volume	38
DOIs	https://doi.org/10.1016/j.ymgmr.2024.101057
Publication status	Published - 2024

Keywords

Classic galactosemia
Late diagnosis
Natural history

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10.1016/j.ymgmr.2024.101057Licence: CC BY-NC-ND

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Quelhas, D., Kingma, S. D. K., Jonckheere, A. I., Smeets-Peels, C. S., Gomes, D. C., Duro, J., Oliveira, A., Matthijs, G., Steinbusch, L. K. M., Jaeken, J., Rivera, I., & Rubio-Gozalbo, E. (2024). Natural history of three late-diagnosed classic Galactosemia patients. Molecular Genetics and Metabolism Reports, 38, Article 101057. https://doi.org/10.1016/j.ymgmr.2024.101057

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title = "Natural history of three late-diagnosed classic Galactosemia patients",

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",

author = "Dulce Quelhas and Kingma, \{Sandra D.K.\} and Jonckheere, \{An I.\} and Smeets-Peels, \{Claudia S.\} and Gomes, \{Daniel Costa\} and Jos{\'e} Duro and Anabela Oliveira and Gert Matthijs and Steinbusch, \{Laura K.M.\} and Jaak Jaeken and Isabel Rivera and Estela Rubio-Gozalbo",

note = "Funding Information: This work is supported by National Funds through the FCT-Funda{\c c}{\~a}o para a Ci{\^e}ncia e a Tecnologia ( Portuguese National Funding Agency for Science, Research and Technology ) in the frameworks of the UID/Multi/00215/2013 project – Unit for Multidisciplinary Research in Biomedicine–UMIB/ICB AS/UP , ERA-Net for Research on Rare Diseases ( ERA-NET Cofound Action N° 64578 ; Euroglycanomics) (G.M., M.P.W., F.F.), and by the Jaeken-Theunissen CDG Fund . Publisher Copyright: {\textcopyright} 2023",

year = "2024",

doi = "10.1016/j.ymgmr.2024.101057",

language = "English",

volume = "38",

journal = "Molecular Genetics and Metabolism Reports",

issn = "2214-4269",

publisher = "Elsevier Science",

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TY - JOUR

T1 - Natural history of three late-diagnosed classic Galactosemia patients

AU - Quelhas, Dulce

AU - Kingma, Sandra D.K.

AU - Jonckheere, An I.

AU - Smeets-Peels, Claudia S.

AU - Gomes, Daniel Costa

AU - Duro, José

AU - Oliveira, Anabela

AU - Matthijs, Gert

AU - Steinbusch, Laura K.M.

AU - Jaeken, Jaak

AU - Rivera, Isabel

AU - Rubio-Gozalbo, Estela

N1 - Funding Information: This work is supported by National Funds through the FCT-Fundação para a Ciência e a Tecnologia ( Portuguese National Funding Agency for Science, Research and Technology ) in the frameworks of the UID/Multi/00215/2013 project – Unit for Multidisciplinary Research in Biomedicine–UMIB/ICB AS/UP , ERA-Net for Research on Rare Diseases ( ERA-NET Cofound Action N° 64578 ; Euroglycanomics) (G.M., M.P.W., F.F.), and by the Jaeken-Theunissen CDG Fund . Publisher Copyright: © 2023

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - Classic galactosemia

KW - Late diagnosis

KW - Natural history

U2 - 10.1016/j.ymgmr.2024.101057

DO - 10.1016/j.ymgmr.2024.101057

M3 - Article

SN - 2214-4269

VL - 38

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

M1 - 101057

ER -

Natural history of three late-diagnosed classic Galactosemia patients

Abstract

Keywords

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