The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
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 r...
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| Main Authors: | , , , |
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| Format: | Book |
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MDPI AG,
2021-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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 <i>GALM</i>, 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 <i>GALM</i> 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. |
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| Item Description: | 10.3390/ijns7040068 2409-515X |