The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review.

Background: Untreated patients affected by hereditary fructose intolerance (HFI) present an abnormal transferrin (Tf) glycosylation pattern suggestive of N-hypoglycosylation. Analysis of defects in N-glycosylation is possible by analysis of serum sialotransferrin (sialoTf) pattern. The sialoTf profile is a valuable tool to facilitate the diagnosis of HFI.

Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications.

Managing Inherited Metabolic Disorders (IMDs) at risk for hypoglycemia, such as Glycogen Storage Diseases (GSDs), Hereditary Fructose Metabolism Disorders (HFMDs) and Congenital Hyperinsulinism (CH), poses challenges in dietary treatments and blood glucose monitoring. The effectiveness of Continuous Glucose Monitoring (CGM) remains a subject of ongoing debate, with IMD guidelines maintaining caution. Therefore, a systematic evaluation is needed to understand the potential benefits of CGM during dietary interventions.

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not included in the newborn screening (NBS) panels but it can be incidentally identified when investigating methylmalonic acidemia and propionic acidemia. Here, we report for the first time the biochemical description of a case detected by NBS.

Optimal Prandial Timing of Insulin Bolus in Youths with Type 1 Diabetes: A Systematic Review.

The aim of this systematic review was to report the evidence on optimal prandial timing of insulin bolus in youths with type 1 diabetes. A systematic search was performed including studies published in the last 20 years (2002-2022). A PICOS framework was used in the selection process and evidence was assessed using the GRADE system.

A hemorrhagic syndrome of the elderly patient caused by anti-factor VIII antibodies.

We report here 2 cases of elderly patients who were admitted to our Department of Geriatrics for a hemorrhagic syndrome. The patients were found to be affected by a coagulopathy with prolonged activated partial thromboplastin time (aPTT), caused by the presence of an acquired inhibitor of Factor VIII. This syndrome, due to anti-Factor VIII antibodies, is surely an important clinical entity that is not easy to diagnosed, but in concomitance with a hemorrhagic syndrome and prolonged aPPT it should always be suspected.