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Inborn errors of Carbohydrate Metabolism
Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.
JIMD Reports, Volume 23
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Vascular Dysfunction Beyond Pathological Pregnancies. An International Effort Addressed to Fill the Gaps in Latin America
Pregnancy is a physiologically stressful condition that generates a series of functional adaptations in the cardiovascular system. The impact of pregnancy on this system persists from conception beyond birth. Recent evidence suggests that vascular changes associated with pregnancy complications, such as preeclampsia; gestational diabetes; growth restriction; autoimmune diseases; among others, affect the function of the maternal and offspring vascular systems, after delivery and may be extended until adult life. Since the vascular system contributes to systemic homeostasis, defective development or function of blood vessels predisposes both mother and infant to future risk for chronic disease...
Hyperborder
Roving vigilantes, fear-mongering politicians, hysterical pundits, and the looming shadow of a seven hundred-mile-long fence: the US–Mexican border is one of the most complex and dynamic areas on the planet today. Hyperborder provides the most nuanced portrait yet of this dynamic region. Author Fernando Romero presents a multidisciplinary perspective informed by interviews with numerous academics, researchers, and organizations. Provocatively designed in the style of other kinetic large-scale studies like Rem Koolhaas's Content and Bruce Mau’s Massive Change, Hyperborder is an exhaustively researched report from the front lines of the border debate.
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