Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.

Therapeutic Indications of the Ketogenic Diet: A Integrative Review

The ketogenic diet (KD), a restrictive diet, is mainly characterized by high-fat content, low or no carbohydrate content, and low or normal protein content. This review aimed to address the main syndromes or diseases in which the therapeutic use of KD can be beneficial. One of the main clinical indications of KD has been, for some time, in the treatment of epilepsy refractory to the use of medications, with satisfactory results in the control of seizures. Recently, studies have addressed the metabolism of ketone bodies caused by KD, in the adjuvant treatment of tumors and endocrine disorders, such as diabetes and obesity, with promising results. In this work, the therapeutic aspect of KD was analyzed, as an aid in the control of pre-existing diseases, and that being a very restrictive diet with controversial effects, its use may be limited and it is not advisable to maintain it for long periods or without the proper follow-up.

Designing food and meals for bone marrow transplant patients with compromised immunity

Immunocompromised post-bone marrow transplant patients must follow a restrictive diet after discharge to avoid microbiological risks in food. Despite the apparent health considerations, these restrictions can sometimes create confusion and apprehension during home meal preparation which has a negative impact on patients’ social dining experiences with families and friends and ultimately leads to adverse health effects such as appetite and weight loss. A user-friendly meal guidebook, specifically designed to fit patient’s needs, was developed to ensure a smooth transition from controlled hospital food to home-cooked meals without compromises in food safety and pleasure. With this guidebook, the objective of this uncommon collaboration between chefs and health professionals was to provide clear instructions to the patients on their diet and adapted recipes (six starters, eight main dishes and eight desserts) easy to do and share with the whole family. This design project represents a unique approach to addressing the food and nutrition needs of these transplant patients. Thus, this article presents an example of a multi-actor collaboration between health and culinary professionals who combined their expertise to help the patients feel less marginalized after their hospitalization and to support their recovery by providing adapted recipes that they can share with their family.

An effective medical replacement therapy: ketogenic diet for intractable childhood epilepsy

Ketogenic diet (KD) a high fat, adequate protein and low carbohydrate restrictive diet has a long history of its use in intractable epilepsy of childhood. The diet produces biochemical changes mimicking that of starvation. The high levels of ketone bodies produced by KD act as a major source of energy for brain replacing the usual glucose.1 Comprising the ratio of 4:1 (fat:carbohydrate and protein) by weight, the diet produces state of ketonemia or ketosis that leads to reduction in frequency of epileptic seizures by is unique mode of action. To increase the palatability medium chain triglycerides (as coconut oil) in ratio of 3:1 is used which is more efficiently absorbed and have lesser gastro intestinal side effects as compared to traditional 4:1 ratio diet with long chain triglycerides like PUFA

The Adult Phenylketonuria (PKU) Gut Microbiome

Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition. Little is known of the effects of these dietary interventions on the gut microbiome of PKU patients, particularly in adults. In this study, we sequenced the V4 region of the 16S rRNA gene from stool samples collected from adults with PKU (n = 11) and non-PKU controls (n = 21). Gut bacterial communities were characterized through measurements of diversity and taxa abundance. Additionally, metabolic imputation was performed based on detected bacteria. Gut community diversity was lower in PKU individuals, though this effect was only statistically suggestive. A total of 65 genera across 5 phyla were statistically differentially abundant between PKU and control samples (p < 0.001). Additionally, we identified six metabolic pathways that differed between groups (p < 0.05), with four enriched in PKU samples and two in controls. While the child PKU gut microbiome has been previously investigated, this is the first study to explore the gut microbiome of adult PKU patients. We find that microbial diversity in PKU children differs from PKU adults and highlights the need for further studies to understand the effects of dietary restrictions.

The changing face of hunger: from fasting to the concept of atherogenesis

The history of hunger is a story about natural disasters and wars, but, on the other hand, also about the investigation of evolutionary defense mechanisms concerning quantitative food shortages. The article presents how fasting and the experimental starving oriented the development of physiology, and it is based on a comparative analysis of monographs and articles on starvation in the medical context from library collections and the PubMed database. Over the centuries, doctors have believed that fasting has a beneficial effect on health, and they recommended a restrictive diet during an illness. In the 19th century, the growth of modern physiology was determined by experimental fasting of human subjects and animals. Furthermore, undernourishment and chronic hunger in large populations were recognized as a threat to public health for the first time. During both world wars, depriving civilians of food became a strategy of combat and a method of genocide. The mass nature of war hunger motivated doctors to research the pathophysiology of starvation and refeeding of emaciated people, even in the ghetto or concentration camps. After the Second World War, the invention of the scanning electron microscope enabled systematic studies on the effects of starvation on the human body. As a result, the pathogenesis of atherosclerosis and the cellular metabolism of cholesterol at the submolecular level were clarified. At the turn of the 21st century, the research on the metabolic response to starvation shed new light on atherogenesis and the link between lipid and carbohydrate metabolism.

Delayed phenylketonuria diagnosis: a challenging case in child psychiatry

ObjectivesPhenylalanine hydroxylase deficiency is an autosomal recessive inborn error of phenylalanine metabolism.What is new?Εven in cases with negative newborn screening for inborn errors of metabolism, the possibility of a metabolic disorder including PKU should be considered in any child presenting symptoms of developmental disorders. Late diagnosed PKU patients require a more specialized and individualized management than if they were early treatment cases.Case presentationWe discuss a case of a child with typical autistic symptomatology, in whom years later a diagnosis of phenylketonuria was set, even neonatal screening was negative. Τhe patient was placed on a phenylalanine-restricted diet. After a period of clinical improvement, severe behavioral problems with aggressiveness and anxiety were presented. Less restrictive diet ameliorated the symptomatology.ConclusionThis case highlights the major medical importance of adequate newborn screening policy, in order to avoid missed diagnosed cases. PKU may be presented as autism spectrum disorder. Dietary management needs individualized attentive monitoring.