Article
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Molecular genetics and metabolism - 1 Jan 2000
Conte Federica, Morava Eva, Bakar Nurulamin Abu, Wortmann Saskia B, Poerink Anne Jonge, Grunewald Stephanie, Crushell Ellen, Al-Gazali Lihadh, de Vries Maaike C, Mørkrid Lars, Hertecant Jozef, Brocke Holmefjord Katja S, Kronn David, Feigenbaum Annette, Fingerhut Ralph, Wong Sunnie Y, van Scherpenzeel Monique, Voermans Nicol C, Lefeber Dirk J
Abstract excerpt
Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production. The metabolic management consists of dietary D-galactose supplementation that ameliorates hypoglycemia, hepatic dysfunction, endocrine anomalies and growth delay. Previous studies suggest that D-galactose administration in juvenile...
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