Zusammenfassung
Three inborn errors of galactose metabolism are known. The clinically best recognized is classic galactosemia caused by a complete or profound deficiency of galactose-1-phosphate uridylyltransferase (GALT). Classic galactosemia can be life threatening in infancy with multiorgan involvement; long-term developmental and other complications are also common. Partial GALT deficiency ranges from having serious consequences in the newborn period to being generally mild or benign. Uridine diphosphate galactose 4¢-epimerase (GALE) deficiency exists as a continuum. The very rare profound, but not complete, GALE deficiency clinically resembles classic galactosemia, at least in the neonatal period. Partial GALE deficiency, which is much more common, at least in some populations, appears to be mild or benign. Galactokinase (GALK) deficiency is extremely rare in many populations but more common in others and can lead to the formation of nuclear cataracts and possibly also long-term developmental deficits, often without provoking acute symptoms of intolerance. Other secondary causes of impaired liver handling of galactose in the neonatal period are congenital portosystemic shunting and multiple hepatic arteriovenous malformations. Whenever an infant is suspected of having a disorder of galactose metabolism, it is imperative that all milk feeding is ceased immediately and replaced with soy or elemental formula to minimize the risk of acute disease or death while the diagnosis is pursued.
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Berry, G.T., Walter, J., Fridovich-Keil, J.L. (2016). Disorders of Galactose Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_6
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