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Duarte galactosemia (also known as Duarte variant galactosemia, DG, or biochemical variant galactosemia) is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase 〔Fridovich-Keil, J., et al., Duarte Variant Galactosemia, in GeneReviews, R. Pagon, et al., Editors. 2014, University of Washington, Seattle. Review. PMID 25473725〕 Duarte galactosemia (DG) is estimated to affect close to one in 4,000 infants born in the United States. DG Is considered by most healthcare professionals to be clinically mild.〔 It differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete, or almost complete, GALT deficiency.〔Berry, G., (Classic Galactosemia and Clinical Variant Galactosemia ), in GeneReviews, R. Pagon, et al., Editors. 2014, University of Washington, Seattle. Review.〕 DG, and the possible outcomes associated with this condition, are currently not well understood. Due to regional variations in newborn screening (NBS) protocols, some infants with DG are identified by NBS but others are not.〔 In addition, of the infants who are diagnosed, most are clinically healthy as babies and toddlers, resulting in early discharge from follow up.〔 Many healthcare professionals believe that DG does not negatively impact development. However, some reports have indicated that children with DG may be at increased risk for some developmental problems.〔Powell KK, Van Naarden Braun K, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M. Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med. 2009 Dec;11(12):874-9. doi: 10.1097/GIM.0b013e3181c0c38d. PMID 19904210〕〔Lynch ME, Potter NL, Coles CD, Fridovich-Keil JL. Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. JIMD Rep. 2015;19:75-84. doi: 10.1007/8904_2014_370. Epub 2015 Feb 15.PMID 25681083〕 ==Symptoms== Infants with DG show an impaired ability to metabolize galactose, a sugar found at high levels in breast milk, milk formula, and most dairy products.〔Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014 Jul;112(3):191-7. doi: 10.1016/j.ymgme.2014.04.004. Epub 2014 May 2. Review. PMID 24857409〕 Galactose is found at low levels in many fruits, vegetables, and other foods. Galactose is also produced at low levels by the human body. Infants with DG, who consume breast milk or formula containing the milk sugar, lactose, are usually, but not always, asymptomatic. Infants who do show symptoms, such as jaundice, typically recover quickly when switched to a low-lactose diet, such as soy formula.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Duarte galactosemia」の詳細全文を読む スポンサード リンク
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