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

## TL;DR

This study examines pregnancy outcomes in women with hereditary fructose intolerance, focusing on health and baby weight differences.

## Contribution

The study provides new insights into pregnancy-related health and outcomes in women with hereditary fructose intolerance and carriers.

## Key findings

- Women with HFI showed improved physical and emotional states compared to the general population.
- Babies born to HFI-affected mothers had lower weights compared to those of carrier mothers.
- Persistent hepatic issues like steatosis and adenomas were observed in HFI patients and carriers post-pregnancy.

## Abstract

(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.