Published: May 13, 2025

Purpose Classic galactosemia (CG) is an autosomal recessive inborn error of galactose metabolism, caused by a profound deficiency galactose-1-phosphate uridyltransferase (GALT). Neonates affected CG may appear healthy at birth but develop severe, life-threatening symptoms shortly after milk feeding begins. Common early signs include jaundice, hepatomegaly, intolerance, vomiting, and sepsis. Early diagnosis intervention with galactose-free diet are essential to prevent acute liver failure, sepsis, death. However, even treatment, long-term complications, including neurodevelopmental impairments ovarian prevalent. In regions without newborn screening programs, frequently delayed. This study aimed retrospectively characterize the clinical profile, diagnostic approach, genetic spectrum, incidence, outcomes neonatal classic in North Indian tertiary center. Methods Medical records neonates (≤ 28 days) diagnosed Sher-i-Kashmir Institute Sciences (SKIMS) from January 2018 December 2025 were reviewed. Inclusion criteria required features consistent CG, confirmed near-absent erythrocyte GALT activity and/or pathogenic mutations both alleles. Clinical data, laboratory results (bilirubin, enzymes, coagulopathy, culture findings), treatments, recorded. Genetic testing was performed when available. Descriptive statistical methods used for data analysis. Results Eighteen (10 males, 8 females) identified, representing approximately 2.5% cholestasis cases. Parental consanguinity present 5 (28%) The median age symptom onset 9 days (range 3–21), 19 7–45). Jaundice all infants, hepatomegaly 89%. Poor lethargy common 83% cases, while vomiting noted 67%. Sepsis, primarily due Escherichia coli, occurred (50%) infants. Cataracts observed (28%). Laboratory tests showed cholestatic total bilirubin 18 mg/dL elevated enzymes (AST ALT 3–10× normal). Coagulopathy (INR > 2) 6 (33%) All infants received lactose-free diet, supportive care, antibiotics, blood products as needed. No exchange transfusions required. identified 7 distinct mutations, p.Gln188Arg (Q188R) most frequent. Clinically, patients improved diet. Three deaths (17%) occurred, presenting 3 weeks severe sepsis multiorgan failure. remaining 15 (83%) survived discharge. At follow-up 12 months, survivors had normal function, exhibited mild developmental delays, one female insufficiency. Conclusions Neonatal remains disorder high mortality if Prompt recognition dietary management lead favorable short-term outcomes. lacking screening, jaundice or could fatalities. Our highlights diversity cohort, underscoring need comprehensive Long-term crucial, face reproductive challenges. findings support implementation India improve

Language: Английский