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ENPentosuria (PNTSU)
Alias:
Xylitol Dehydrogenase Deficiency
Essential Pentosuria
L-Xylulose Reductase Deficiency
L-Xylulosuria
Pntsu
Essential Benign Pentosuria
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Pentosuria, also known as xylitol dehydrogenase deficiency, is related to alkaptonuria and neuromuscular disease. An important gene associated with Pentosuria is DCXR (Dicarbonyl And L-Xylulose Reductase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver, and related phenotypes are abnormality of circulating enzyme level and abnormal urine carbohydrate level
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MALACARDS
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