Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders

Brambilla, Alessandra; Bianchi, Maria Luisa; Cancello, Raffaella; Galimberti, Cinzia; Gasperini, Serena; Pretese, Roberta; Rigoldi, Miriam; Tursi, Serena; Parini, Rossella

doi:10.1002/jimd.12108

Cited by 7 publications

(12 citation statements)

References 33 publications

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“…Other clinical features of the disorder may include trichorrhexis nodosa, cognitive impairment, seizures, hypokalemia, diarrhea, and liver disease (4). Systemic hypertension has also been described in a subset of individuals with ASLD (3,(5)(6)(7)(8). Treatment typically includes low-protein diet with essential amino acid supplementation, arginine supplementation, use of nitrogen-scavenging agents, and -in some cases -liver transplantation.…”

Section: Introductionmentioning

confidence: 99%

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency

Burrage¹,

Madan²,

Li³

et al. 2020

JCI Insight

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BACKGROUND. Liver disease in urea cycle disorders (UCDs) ranges from hepatomegaly and chronic hepatocellular injury to cirrhosis and end-stage liver disease. However, the prevalence and underlying mechanisms are unclear. METHODS. We estimated the prevalence of chronic hepatocellular injury in UCDs using data from a multicenter, longitudinal, natural history study. We also used ultrasound with shear wave elastography and FibroTest to evaluate liver stiffness and markers of fibrosis in individuals with argininosuccinate lyase deficiency (ASLD), a disorder with high prevalence of elevated serum alanine aminotransferase (ALT). To understand the human observations, we evaluated the hepatic phenotype of the Asl Neo/Neo mouse model of ASLD. RESULTS. We demonstrate a high prevalence of elevated ALT in ASLD (37%). Hyperammonemia and use of nitrogen-scavenging agents, 2 markers of disease severity, were significantly (P < 0.001 and P = 0.001, respectively) associated with elevated ALT in ASLD. In addition, ultrasound with shear wave elastography and FibroTest revealed increased echogenicity and liver stiffness, even in individuals with ASLD and normal aminotransferases. The Asl Neo/Neo mice mimic the human disorder with hepatomegaly, elevated aminotransferases, and excessive hepatic glycogen noted before death (3-5 weeks of age). This excessive hepatic glycogen is associated with impaired hepatic glycogenolysis and decreased glycogen phosphorylase and is rescued with helper-dependent adenovirus expressing Asl using a liverspecific (ApoE) promoter. CONCLUSION. Our results link urea cycle dysfunction and impaired hepatic glucose metabolism and identify a mouse model of liver disease in the setting of urea cycle dysfunction. TRIAL REGISTRATION. This study has been registered at ClinicalTrials.gov (NCT03721367, NCT00237315).

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Section: Introductionmentioning

confidence: 99%

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency

Burrage¹,

Madan²,

Li³

et al. 2020

JCI Insight

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“…In UCD the few available data demonstrated an energy intake lower than the recommended value with a negative correlation between the percentage of FM and the total protein intake (Hook et al, 2016;Evans et al, 2017). Brambilla et al (2019), in a more recent study, evaluated the resting energy expenditure in argininosuccinic aciduria (ASA) and in the other UCD, demonstrating that ASA had a resting energy expenditure (from indirect calorimetry, IC-REE) of 88% of the value predicted by the FAO and Harris-Benedict equations, whereas in the other UCD it was similar to the one expected. Low IC-REE was associated in ASA patients with increased prevalence of pathological waist circumference-to-height ratio, hypertension, hypertriglyceridemia and low HDL-cholesterol.…”

Section: Other Diseasesmentioning

confidence: 99%

“…Definitely ASA patients have higher risk of obesity and increased cardiovascular risk. No data about microbiota in UCD are available, but it could be interesting to evaluate the presence of bacterial strains associated with proinflammatory patterns ( Brambilla et al, 2019 ).…”

Section: Iems and Non-communicable Diseases: What’s The Role Of Microbiome?mentioning

confidence: 99%

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Montanari

Parolisi²,

Borghi

et al. 2021

Front. Physiol.

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Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic defects. In this context, among the established factors influencing the metabolic flux, i.e., diet, lifestyle, antibiotics, xenobiotics, infectious agents, also the individual gut microbiota should be considered. A healthy gut microbiota contributes in maintaining human health by providing unique metabolic functions to the human host. Many patients with IEMs are on special diets, the main treatment for these diseases. Hence, IEMs represent a good model to evaluate how specific dietary patterns, in terms of macronutrients composition and quality of nutrients, can be related to a characteristic microbiota associated with a specific clinical phenotype (“enterophenotype”). In the present review, we aim at reporting the possible links existing between dysbiosis, a condition reported in IEMs patients, and a pro-inflammatory status, through an altered “gut-liver” cross-talk network and a major oxidative stress, with a repercussion on the health status of the patient, increasing the risk of non-communicable diseases (NCDs). On this basis, more attention should be paid to the nutritional status assessment and the clinical and biochemical signs of possible onset of comorbidities, with the goal of improving the long-term wellbeing in IEMs. A balanced intestinal ecosystem has been shown to positively contribute to patient health and its perturbation may influence the clinical spectrum of individuals with IEMs. For this, reaching eubiosis through the improvement of the quality of dietary products and mixtures, the use of pre-, pro- and postbiotics, could represent both a preventive and therapeutic strategy in these complex diseases.

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“…Brambilla et al [15] evaluated lean body mass (LM) and fat body mass (FM) by DXA analysis in 8 patients with ASL (adult n = 5) and in 9 patients with other UCDs (adult n = 5). Total body and trunk fat mass (FM) z-scores were ≤+1 SD for age and gender related cut-off in all patients [23].…”

Section: Energy Expenditure and Body Compositionmentioning

confidence: 99%

Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias

et al. 2020

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Low-protein diets (LPDs) are the main treatment for urea cycle disorders (UCDs) and organic acidemias (OAs). In most cases, LPDs start in childhood and must be continued into adulthood. The improved life expectancy of patients with UCDs and OAs raises the question of their consequences on nutritional status in adult subjects. As this topic has so far received little attention, we conducted a review of scientific studies that investigated the nutrient intake and nutritional status in adult patients with UCDs and branched chain organic acidemias (BCOAs) on LPD. Methods: The literature search was conducted in PubMed/MEDLINE, Scopus, EMBASE and Google Scholar from 1 January 2000 to 31 May 2020, focusing on nutrient intake and nutritional status in UCD and OA adult patients. Results: Despite protein restriction is recommended as the main treatment for UCDs and OAs, in these patients, protein intake ranges widely, with many patients who do not reach safety levels. When evaluated, micronutrient intake resulted below recommended values in some patients. Lean body mass resulted in most cases lower than normal range while fat body mass (FM) was often found normal or higher than the controls or reference values. Protein intake correlated inversely with FM both in adult and pediatric UCD patients. Conclusions: The clinical management of adult patients with UCDs and BCOAs should include an accurate assessment of the nutritional status and body composition. However, as little data is still available on this topic, further studies are needed to better clarify the effects of LPDs on nutritional status in adult UCD and BCOA patients.

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Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders

Cited by 7 publications

References 33 publications

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias

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