PP398 - METABOLIC DYSFUNCTION–ASSOCIATED STEATOTIC LIVER DISEASE AND FIBROSIS IN ADULTS WITH UREA CICLE DISORDERS (UCDS): A CROSS-SECTIONAL STUDY

PP398

METABOLIC DYSFUNCTION–ASSOCIATED STEATOTIC LIVER DISEASE AND FIBROSIS IN ADULTS WITH UREA CICLE DISORDERS (UCDS): A CROSS-SECTIONAL STUDY

N. Vitturi¹, G. Gugelmo^1,*, F. Francini Pesenti², F. Tosetto¹, L. Lenzini³, F. P. Russo⁴, L. Busetto², A. Burlina⁵, G. P. Fadini¹

¹Division of Metabolic Diseases, ²Division of Clinical Nutrition, ³Department of Medicine, ⁴Multivisceral Transplant Unit, Department of Surgery, Oncology and Gastroenterology,, ⁵Division of Inherited Metabolic Diseases, Department of Woman's and Child's Health, Azienda Ospedale Università Padova, Padova, Italy

Rationale: UCDs are rare inherited metabolic disorders characterized by impaired ammonia detoxification. While acute liver injury is well described, chronic alterations remain poorly defined. We aimed to assess the prevalence of metabolic dysfunction–associated steatotic liver disease (MASLD) and liver fibrosis (LF), and to explore their nutritional correlates in adult UCDs.

Methods: 11 patients (mean age 32.4±8.0 years; 53.8% males) were included in a cross-sectional study. Clinical, nutritional and body composition (bioimpedance analysis) were collected. Liver steatosis and stiffness were assessed by vibration-controlled transient elastography (VCTE) with controlled attenuation parameter (CAP), MASLD defined as steatosis plus≥1 cardiometabolic risk factor.

Results: 46.2% presented steatosis and MASLD, 30.8% LF (stiffness≥8 kPa). MASLD+ showed higher body mass index (BMI) (p=0.02), age (p=0.02) and fat mass index in males (p=0.04), with CAP correlating with waist circumference (r=0.69,p=0.01). LF was not associated with MASLD (χ²=1.04,p=0.31) and occurred in normal-weight individuals (BMI<25:75% vs.≥25:11%; χ²=5.31,p=0.02). Phase angle was reduced in fibrosis+ females (p=0.01). Dietary intake showed opposite trends: MASLD+ tended toward lower energy intake (EI) (20.76±4.46 vs. 26.39±5.63 kcal/kg/day;p=0.07) and protein intake (PI) (0.39±0.11 vs. 0.54±0.14 g/kg/day;p=0.06), fibrosis+ toward higher EI (27.9±7.6 vs. 21.9±5.8 kcal/kg/day;p=0.08) and PI (0.57±0.06 vs. 0.43±0.15 g/kg/day;p=0.10).

Conclusion: MASLD follows a classical adiposity-driven phenotype, whereas LF appears partially independent, potentially linked to disease-specific mechanisms. The different nutritional patterns observed suggest metabolic adaptations underlying each condition. These findings support the need for larger studies on nutrition, nitrogen metabolism, and liver disease progression in adult UCDs.

Disclosure of Interest: None declared