[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-533561-105":59,"doc-detail-533561-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","galactosemia-etiology-diagnosis-and-treatment","Galactosemia - Etiology, Diagnosis, and Treatment","","Neonatal fever with vomiting and poor feeding, followed by jaundice, hepatomegaly, and markedly abnormal liver enzymes, can indicate galactosemia. Blood cultures growing Escherichia coli increases concern for severe sepsis risk. Supporting findings include hypoglycemia, metabolic acidosis, hyperbilirubinemia, and positive urine reducing substances. Diagnosis is confirmed by absent RBC galactose-1-phosphate uridylyltransferase (GALT) activity, and treatment requires eliminating dietary galactose using a galactose-free, soy-based formula.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/galactosemia-etiology-diagnosis-and-treatment/533561/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/galactosemia-etiology-diagnosis-and-treatment/533561.png","ImageObject",300,407,{"name":92,"@type":93},"mieayamfan","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-10-10",true,{"@type":102,"interactionType":103,"userInteractionCount":24},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What condition best explains neonatal jaundice, vomiting, and hepatomegaly in this scenario?","Question",{"text":112,"@type":113},"The presentation is consistent with galactosemia due to GALT deficiency, causing impaired metabolism of galactose and toxic tissue accumulation.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Which additional finding increases concern for sepsis in galactosemia?",{"text":117,"@type":113},"Galactose accumulation increases risk for Escherichia coli sepsis, which may be the initial presentation in some neonates.",{"name":119,"@type":110,"acceptedAnswer":120},"How is galactosemia diagnosed and confirmed here?",{"text":121,"@type":113},"Diagnosis can be identified on newborn screening, and confirmation comes from absent red blood cell GALT activity.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},533561,1792588305,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":24,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},962090893677,"https://ap-avatar.wpscdn.com/davatar_3d24733baf745e90a7e4bdd5f77d97b2","A7-day-old African American boy is being evaluated in the hospital.He was admitted yesterday due to sepsis after being brought to theemergency department with fever and vomiting.The patient is receiving intravenous antibiotics,and blood cultures grew Escherichia coli.He hadbeen breastfeeding prior to admission,but feeds are being held due to vomiting.The patient was born at term,and there were no complicationsduring the pregnancy and delivery.Temperature is 38.2C(100.8 F)and pulse is 158/min.Examination shows jaundice.The liver is palpable 4cm below the costal margin.Laboratory results are as follows:  \nComplete blood count  \nHemoglobin12 g/dL (normal:13.4-19.9)  \nMean corpuscular volume98 μm³(normal:88-123)  \n260,000/mm³  \nPlatelets  \n15,000/mm³  \nLeukocytes  \nMean corpuscular hemoglobin concentration 33%Hb/cell  \nLiver function studies  \nTotal bilirubin  \n13 mg/dL(normal:≤12)  \n2 mg/dL  \nDirect bilirubin  \nAspartate aminotransferase(SGOT)182 U/L(normal:47-150)  \nAlanine aminotransferase (SGPT)160 U/L(normal:13-45)  \nImmunologic and rheumatologic studies  \nDirect Coombs  \nnegative  \nWhich of the following is the most likely cause for this patient's condition?  \n○ A.Inability to metabolize galactose to glucose  \n○ B.Inadequate NADPH production for oxidative injury protection○ C.Loss-of-function mutation in the WAS gene〇D.Mutation in proteins linking the red blood cell membrane to its cvtoskeleton  \nComplete blood count  \nHemoglobin12 g/dL (normal:13.4-19.9)  \nMean corpuscular volume98 μm³(normal:88-123)  \n260,000/mm³  \nPlatelets  \n15,000/mm³  \nLeukocytes  \nMean corpuscular hemoglobin concentration 33%Hb/cell  \nLiver function studies  \n13 mg/dL(normal:≤12)  \nTotal bilirubin  \nDirect bilirubin  \n2 mg/dL  \nAspartate aminotransferase (SGOT)182 U/L(normal:47-150)  \nAlanine aminotransferase (SGPT)160 U/L(normal:13-45)  \nImmunologic and rheumatologic studies  \nDirect Coombs  \nnegative  \nWhich of the following is the most likely cause for this patient's condition?○ A.Inability to metabolize galactose to glucose  \n○ B.Inadequate NADPH production for oxidative injury protection○ C.Loss-0f-function mutation in the WAS gene  \n○ D.Mutation in proteins linking the red blood cell membrane to its cytoskeletonO E.Single amino acid substitution within the beta-globin chain  \nSubmit  \nA AA  \n1 of 40  \nF  \n0.2  \n三×  \n□□□□  \nMark  \ntion Id:17281  \nExit Mode  \nSettings  \nPrevious  \nNext  \nTutorial  \nLab Values  \nNotes  \nCalculator  \nText Zoom  \nReverse Color  \n\n| Galactosemia   |  |\n| --- | --- |\n| Etiology   | ·GALT deficiency  \u003Cbr>·Autosomal recessive  \u003Cbr>·Galactose accumulation after lactose or galactose ingestion   |\n| Clinical findings   | ·Jaundice &hepatomegaly  \u003Cbr>·Vomiting &poor feeding/failure to thrive  \u003Cbr>·Cataracts  \u003Cbr>● Increased risk for Escherichia coli sepsis   |\n| Laboratory findings   | ·个Bilirubin,AST,ALT  \u003Cbr>·↓Glucose  \u003Cbr>● Metabolic acidosis  \u003Cbr>+Urine reducing substance   |\n| Diagnosis   | ·May be identified on newborn screening  \u003Cbr>·Absent red blood cell GALT activity   |\n| Treatment   | ·Galactose-free diet(eg,soy-based formula)   |\n| ALT=alanine aminotransferase;AST=aspartate aminotransferase;GALT =galactose 1-phosphate uridylyltransferase.   |  |\n\nThis patient's presentation is consistent with galactosemia,an autosomal recessive disorder caused by galactose-1-phosphate uridylyltransferase(GALT)deficiency.Deficiency results in an inability to metabolize galactose to glucose,leading to galactose accumulation in tissues.  \nSymptoms of poor feeding and vomiting develop in the first few days of life after the introduction of galactose,which is found in breast milk andcow's milk-based formula.Galactose accumulation also leads to jaundice and hepatomegaly (hepatic dysfunction),and cataract formation mayoccur.Because excessive galactose can impair leukocyte function and superoxide release,patients are also at increased risk for Escherichiacoli sepsis,which may be the initial presentation of galactosemia in some neonates. ","cbCaiup7LnJg77z5","https://ap.wps.com/l/cbCaiup7LnJg77z5","pdf",40511083,141,"English","# Clinical Presentation\n## Risk of Escherichia coli Sepsis\n# Laboratory Findings\n## Bilirubin and Transaminases\n## Hypoglycemia and Metabolic Acidosis\n## Urine Reducing Substances\n# Diagnosis\n## Newborn Screening and RBC GALT Activity\n# Treatment\n## Galactose-Free Diet","[{\"question\":\"What condition best explains neonatal jaundice, vomiting, and hepatomegaly in this scenario?\",\"answer\":\"The presentation is consistent with galactosemia due to GALT deficiency, causing impaired metabolism of galactose and toxic tissue accumulation.\"},{\"question\":\"Which additional finding increases concern for sepsis in galactosemia?\",\"answer\":\"Galactose accumulation increases risk for Escherichia coli sepsis, which may be the initial presentation in some neonates.\"},{\"question\":\"How is galactosemia diagnosed and confirmed here?\",\"answer\":\"Diagnosis can be identified on newborn screening, and confirmation comes from absent red blood cell GALT activity.\"}]","Galactosemia - Etiology, Diagnosis, and Treatment | PDF",1791592461,355]