Oral D-galactose supplementation in PGM1-CDG
نویسندگان
چکیده
منابع مشابه
Limitations of galactose therapy in phosphoglucomutase 1 deficiency
INTRODUCTION Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice. RESULTS We rep...
متن کاملGlycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
OBJECTIVES A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us to search for a subtype of congenital disorders of glycosyl...
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Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was th...
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The inducible D-galactose-6-phosphate isomerase that functions in the metabolism of lactose and D-galactose in Staphylococcus aureus was partially purified from extracts of D-galactose-grown cells. It was shown to catalyze specifically the reversible isomerization of D-galactose 6-phosphate to D-tagatose 6-phosphate, the apparent Km values being 9.6 mM and 1.9 mM, respectively. At equilibrium, ...
متن کاملCirculating 25-Hydroxyvitamin D Levels in Fully Breastfed Infants on Oral Vitamin D Supplementation
Objective. To examine the effectiveness of oral vitamin D(3) (400 IU) supplementation on the nutritional vitamin D status of breastfeeding infants. Design. As part of a larger ongoing vitamin D RCT trial of lactating women, infants of mothers assigned to control received 1 drop of 400 IU vitamin D(3)/day starting at one month of age. Infant 25(OH)D levels (mean +/- S.D.) were measured by RIA at...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2017
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2017.41