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Article

Heritability of Long-Term Complications in Classic Galactosemia.

Journal of inherited metabolic disease - 1 May 2026

Garrett Olivia S, Smith Nicole H, Cutler David J, Wu Yuhan, Knerr Ina, Pereira Doireann, Rubio-Gozalbo M Estela, Vos E Naomi, Harrison Megan, Pappas Kara, Coman David, Stepien Karolina M, Karall Daniela, Margreitter Julian, Scholl-Bürgi Sabine, Heisler Madison A, Lam Christina, Mills Maria R, Bélanger Emilia, Yu Andrea C, Fridovich-Keil Judith L

Abstract excerpt

As a group, patients with classic galactosemia (CG) demonstrate a high prevalence of long-term complications despite early detection and life-long dietary restriction of galactose, which is the current standard of care. Individual outcomes, however, vary widely. For decades, research teams have sought to identify potential environmental, metabolic, and/or galactose-1-phosphate uridylyltransferase (GALT) allelic...

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Identifiers

PMID: 41905783
DOI: 10.1002/jimd.70181

Genes

GALT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Heritability of Long-Term Complications in Classic Galactosemia.PMID 41905783Read ↗

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Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Semantic proximity Read ↗

Transient developmental delays in infants with Duarte-2 variant galactosemia.Semantic proximity Read ↗

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