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Keywords = GALM deficiency

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18 pages, 885 KiB  
Case Report
Rethinking Newborn Screening: A Case of GALM Deficiency
by Eva M. M. Hoytema van Konijnenburg, Silvia Radenkovic, Klaas Koop, Hubertus C. M. T. Prinsen and Monique de Sain-van der Velden
Int. J. Neonatal Screen. 2025, 11(2), 25; https://doi.org/10.3390/ijns11020025 - 11 Apr 2025
Viewed by 719
Abstract
Galactosemia is a group of hereditary disorders of galactose metabolism. A new type of galactosemia was discovered, caused by a deficiency in galactose mutarotase (GALM), which catalyzes the epimerization between beta- and alpha-D-galactose. All GALM-deficient patients reported in the literature (n = 44) [...] Read more.
Galactosemia is a group of hereditary disorders of galactose metabolism. A new type of galactosemia was discovered, caused by a deficiency in galactose mutarotase (GALM), which catalyzes the epimerization between beta- and alpha-D-galactose. All GALM-deficient patients reported in the literature (n = 44) had abnormal newborn screening (NBS) results or did not receive NBS (n = 2). We present the first patient with GALM deficiency who had negative NBS in the Netherlands and was identified at age 1.5 years during broad metabolic screening because of her global developmental delay, nystagmus, and a history of jaundice. Biochemical evaluation showed a significantly increased excretion of galactose (13,167 mmol/mol creatinine, upper limit of normal (ULN) 326) and galactitol (427 mmol/mol creatinine, ULN 71). Whole exome sequencing showed homozygous variants in GALM (c.424G>A p.(Gly142Arg)). A galactose-restricted diet was started, resulting in biochemical normalization. We present a comprehensive review of GALM-deficient patients, NBS data, and treatment. Different designs of galactosemia screening may lead to overlooking patients with GALM deficiency. Although the effects of lactose-restricted diet are largely unknown, a diet might prevent cataract in some patients. Full article
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7 pages, 386 KiB  
Review
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
by Atsuo Kikuchi, Yoichi Wada, Toshihiro Ohura and Shigeo Kure
Int. J. Neonatal Screen. 2021, 7(4), 68; https://doi.org/10.3390/ijns7040068 - 25 Oct 2021
Cited by 14 | Viewed by 5339
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 [...] Read more.
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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