The discovery of galm deficiency (Type iv galactosemia) and newborn screening system for galactosemia in japan

Research output: Contribution to journalReview articlepeer-review

Abstract

The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4-epimerase (GALE), are associated with genetic galactosemia. We recently identified patients with galactosemia and biallelic variants in GALM, encoding galactose epimerase (GALM), an enzyme that is directly upstream of GALK1. GALM deficiency was subsequently designated as type IV galactosemia. Currently, all the published patients with biallelic GALM variants were found through newborn screening in Japan. Here, we review GALM deficiency and describe how we discovered this relatively mild but not rare disease through the newborn screening system in Japan.

Original languageEnglish
Article number68
JournalInternational Journal of Neonatal Screening
Volume7
Issue number4
DOIs
Publication statusPublished - 2021 Dec

Keywords

  • Galactosemia
  • GALM
  • GALM deficiency
  • Neonatal screening
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Microbiology (miscellaneous)
  • Obstetrics and Gynaecology

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