Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria-Systematic Review.

Morphofunctional assessment was developed to evaluate disease-related malnutrition. However, it can also be used to assess cardiometabolic risk, as excess adiposity increases this risk. Phenylketonuria (PKU) is the most prevalent inherited metabolic disease among adults, and obesity in PKU has recently gained interest, although fat mass correlates better with cardiometabolic risk than body mass index. In this systematic review, the objective was to assess whether adult patients with PKU have higher fat mass than healthy controls. Studies of adult PKU patients undergoing dietary treatment in a metabolic clinic reporting fat mass were included. The PubMed and EMBASE databases were searched. Relevance of articles, data collection, and risk of bias were evaluated by two independent reviewers. Ten articles were evaluated, six with a control group, including 310 subjects with PKU, 62 with mild hyperphenylalaninemia, and 157 controls. One study reported a significant and four a tendency towards an increased fat mass in all patients or only females with PKU. Limitations included not having a healthy control group, not reporting sex-specific results and using different techniques to assess fat mass. Evaluation of fat mass should be included in the morphofunctional assessment of cardiometabolic risk in adult patients with PKU.

Muscle Quality and Risk of Metabolic Syndrome in Adult Patients with Inherited Metabolic Diseases.

Adult patients with several Inherited Metabolic Diseases (IMD) follow diets controlled in proteins, rich in carbohydrates, and free amino acids formulae, which cause hyperinsulinism and ectopic fat. Previous studies showed IMD adult patients have a higher prevalence of metabolic syndrome and their complications [1]. Recently, ultrasound [US) has been validated for malnutrition, assessing muscle quality subjectively [2]. Higher echo intensity (EI) is associated with poorer muscle quality and functional results in aging [3] and other clinical settings, but it has never been evaluated in IMD. US measurements were conducted on 19 IMD patients and 6 healthy controls at Hospital Universitario de Badajoz (HUB) to assess EI, anthropometry, bioimpedance, and biochemistry. The HUB ethics committee approved the protocol and informed consent. Statistics were made with Jamovi. The mean age was 29.9 (range 18-47) in IMD patients vs. 33.7 (26-47) in controls. The distribution of IMD is shown in Figure 2. The mean EI in IMD was 56.9 (60.9 in PKU) vs. 54.4 in controls, NOT being the differences statistically significant (t- Student p =0.633; in PKU, p =0.246). The box plot is shown in Figure 3. IMD patients had excess body fat in a variable degree depending on the method (Figure 4): anthropometry, BIA, preperitoneal fat or myosteatosis. 40% had insulin resistance by HOMA, 20% prediabetes by HbA1c, 58.8% had low HDL-cholesterol levels, and 29.4% had hypertriglyceridemia. Insulin resistance status is shown in Figure 5. Obesity by anthropometry was significantly correlated with subcutaneous abdominal and preperitoneal fat by ultrasound and fat mass by BIA. Fat mass by BIA was correlated to preperitoneal fat, and fat-free mass by BIA with HOMA and degree of metabolic control of IMD. Muscle quality, by an objective tool, such as echo intensity, is worse in patients with IMD than in controls, reflecting poorer muscle metabolic condition and a higher risk of metabolic syndrome. It is not statistically significant, probably due to the small sample size. The prevalence of obesity and other metabolic syndrome components is higher in IMD patients than in the general population of the same age. Body composition analysis by BIA and nutritional ultrasound can help to identify patients at risk of metabolic syndrome before biochemical markers show.

Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with Phenylketonuria.

Cardiovascular diseases are the main cause of mortality worldwide. Patients with phenylketonuria (PKU) may be at increased cardiovascular risk. This review provides an overview of clinical and metabolic cardiovascular risk factors, explores the connections between body composition (including fat mass and ectopic fat) and cardiovascular risk, and examines various methods for evaluating body composition. It particularly focuses on nutritional ultrasound, given its emerging availability and practical utility in clinical settings. Possible causes of increased cardiometabolic risk in PKU are also explored, including an increased intake of carbohydrates, chronic exposure to amino acids, and characteristics of microbiota. It is important to evaluate cardiovascular risk factors and body composition in patients with PKU. We suggest systematic monitoring of body composition to develop nutritional management and hydration strategies to optimize performance within the limits of nutritional therapy.

Long-term outcomes of an advanced hybrid closed-loop system: A focus on different subpopulations.

BACKGROUND: The long-term benefit provided by advanced hybrid closed-loop (AHCL) systems needs to be assessed in general populations and specific subpopulations. METHODS: A prospective evaluation of subjects initiating the AHCL system 780G was performed. Time in range (70-180 mg/dl) (TIR), <70 mg/dl, <54 mg/dl, >180 mg/dl and >250 mg/dl were compared, at baseline and after one year, in different subpopulations, according to previous treatment (pump vs MDI), age (> or ≤25 years old) and hypoglycaemia risk at baseline. RESULTS: 135 subjects were included (age: 35 ± 15 years, 64 % females, diabetes duration: 21 ± 12 years). An increase in TIR was found, from 67.26 ± 11.80 % at baseline to 77.41 ± 8.85 % after one year (p < 0.001). All the subgroups showed a significant improvement in TIR, time > 180 mg/dl and >250 mg/dl. At the 1-year evaluation, no significant differences were found, between previous pump users and MDI subjects. Children and young adults had a lower time < 70 mg/dl than adults. Subjects with a high risk of hypoglycaemia at baseline had a higher time spent at <70 mg/dl and <54 mg/dl than low-risk individuals. CONCLUSION: The initial benefit provided by the AHCL system is sustained in the long term. MDI subjects obtain the same outcomes as subjects with pump experience.