{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T11:11:48Z","timestamp":1791457908633,"version":"4.3.4"},"reference-count":34,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Congenital glucose\u2013galactose malabsorption (CGGM) is a rare disease characterised by severe diarrhoea, dehydration and weight loss. To better understand CGGM, we investigated all the case reports and series of CGGM from 2001 to 2019.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A review of reports of CGGM published from 2001 to 2019 was undertaken, using PubMed, Ovid Medline, Springer, Wanfang Database, CBMD database and CKNI database. The clinical features, diagnosis, treatment and prognosis of CGGM in these reports were obtained and analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We reviewed 107 cases for this study. Out of 55 cases from Saudi Arabia and Turkey, 43 cases (78.2%) were from consanguineous marriage. Forty\u2010nine cases (73.1%) were infants. Dehydration, diarrhoea and weight loss occurred in almost all cases. Half of the cases presented hypernatremia and abdominal distension. Vomiting, polyuria\/haematuria and fever were reported in 11, 7 and 3 cases, respectively. Twenty cases (18.7%) showed hypercalcaemia or nephrolithiasis. Stool pH was tested in 43 cases (40.2%). Fifty\u2010five cases (51.4%) were diagnosed for more than 1\u2009month after the onset of symptoms. Two cases (1.9%) died, one needed amputation, and the other 104 cases (97.2%) recovered with fructose formula. Seventy\u2010three cases (68.2%) underwent gene testing, 30 SLC5A1 gene mutations were detected, with 23 cases homozygous, and seven heterozygous mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The clinical characteristics of CGGM are nonspecific, and the diagnosis method is not conventionally applied. Fasting and gene testing are the two most important diagnostic methods. The best treatment of CGGM is supplementation with fructose\u2010based formula.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.14702","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T20:36:13Z","timestamp":1600461373000},"page":"1779-1784","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Literature review on congenital glucose\u2013galactose malabsorption from 2001 to 2019"],"prefix":"10.1111","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7678-3027","authenticated-orcid":false,"given":"Weiyan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neonates Children's Hospital, Zhejiang University, School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Chest Surgery Zhejiang cancer hospital  HangZhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Nutrition Children's Hospital, Zhejiang University, School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,18]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"4891","volume-title":"Metabolic Basis of Inherited Disease","author":"Wright E","year":"2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90333-9"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/350354a0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1521-6918(03)00107-0"},{"key":"e_1_2_7_6_1","first-page":"197","article-title":"Glucose galactose malabsorption complicated with rickets and nephrogenic diabetes insipidus","volume":"23","author":"Al\u2010Lawati T","year":"2008","journal-title":"Oman Med. 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