Descriptive Analysis of Carrier and Affected Hereditary Fructose Intolerance in Women during Pregnancy

• Published in: Healthcare (Basel) Vol. 12; no. 5; p. 573
• Main Authors: Zuriaga, Estefanía, Santander, Sonia, Lomba, Laura, Izquierdo-García, Elsa, Luesma, María José
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 29.02.2024; MDPI
• Subjects: baby information; Birth defects; Child development; Data collection; development of pathology; Diagnosis; Diet; Enzymes; Fructose; Fructose intolerance; Genetic aspects; Health aspects; hereditary fructose intolerance; Infants; Infants (Newborn); Metabolism; Metabolites; Nausea; nutritional habits; physical and emotional state; Pregnancy; Pregnant women; Questionnaires; Risk factors; Sociodemographics; Sorbitol; Uric acid; Vomiting; Womens health; Spain; nutritional habits; physical and emotional state; baby information; development of pathology; pregnancy; hereditary fructose intolerance
• ISSN: 2227-9032; 2227-9032
• DOI: 10.3390/healthcare12050573

(1) Background: Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder resulting from aldolase B deficiency, requiring a fructose, sorbitol and sucrose (FSS)-free diet. Limited information exists on the relationship between pregnancy outcomes and HFI. This study aims to analyze pregnancy-related factors in a cohort of thirty Spanish women, with twenty-three being carriers and seven being HFI-affected (45 pregnancies). (2) Methods: A descriptive, cross-sectional and retrospective study utilized an anonymous questionnaire. (3) Results: Findings encompassed physical and emotional states, nutritional habits, pathology development and baby information. Notable results include improved physical and emotional states compared to the general population, with conventional analyses mostly within normal ranges. Persistent issues after pregnancy included hepatic steatosis, liver adenomas and hemangiomas. Carrier mothers' babies exhibited higher weight than those of patient mothers, while the weights of carrier children born with HFI were similar to disease-affected children. (4) Conclusions: Pregnant women with HFI did not significantly differ in physical and emotional states, except for nausea, vomiting, and cravings. Post-pregnancy, HFI patients and carriers exhibited persistent hepatic issues. Significantly, babies born to HFI-affected mothers had lower weights. This study sheds light on pregnancy outcomes in HFI, emphasizing potential complications and the need for ongoing monitoring and care.