2019
DOI: 10.1038/s41436-018-0340-x
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Biallelic GALM pathogenic variants cause a novel type of galactosemia

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Cited by 49 publications
(86 citation statements)
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“…GALM catalyzes the conversion of β-D-galactose to α-D-galactose, which enters the Leloir pathway. 37…”
Section: Metabolitesmentioning
confidence: 99%
“…GALM catalyzes the conversion of β-D-galactose to α-D-galactose, which enters the Leloir pathway. 37…”
Section: Metabolitesmentioning
confidence: 99%
“…Los pacientes suelen tener cataratas, sin síntomas hepáticos o gastrointestinales. 59 Hasta la fecha se desconocen los efectos secundarios a largo plazo. 58 Puesto que la deficiencia de GALM no se había detectado antes, se desconoce su prevalencia, por lo que podría suponerse que es un trastorno poco frecuente.…”
Section: Galactosemia Tipounclassified
“…Recently, the fourth type of galactosemia has been described, caused by biallelic pathogenic variants in GAL. 15 When one of the Leloir pathway enzymes is deficient, galactose is disposed through alternative pathways. These include galactose reduction to galactitol, catalysed by the NADPH dependent aldose reductase (AR, EC 1.1.1.21), galactose oxidation, leading to the production of galactonate by galactose dehydrogenase (EC 1.1.1.48) and presumably activation of the pyrophosphorylase pathway, which converts galactose to UDP-Glc by the sequential activities of GALK and UDP-glucose pyrophosphorylase (UGP, EC 2.7.7.10).…”
Section: Introductionmentioning
confidence: 99%