The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

Abstract

by Atsuo Kikuchi,Yoichi Wada,Toshihiro Ohura andShigeo Kure
Int. J. Neonatal Screen. 2021, 7(4), 68; https://doi.org/10.3390/ijns7040068 - 2022
Cited by 9 | Viewed by 4460
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. Full article
(This article belongs to the Collection Newborn Screening in Japan)
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9 pages, 1515 KiB
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