Food triggers and inherited metabolic disorders: a challenge to the pediatrician

Abstract

Several disorders should be considered in the case of newborns and infants experiencing acute or recurrent symptoms after food ingestion. Immune-mediated adverse food reactions are the most frequent and always to be considered. Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review reports clinical features and diagnostic aspects of the most common IMDs that may present with acute manifestations triggered by food intake. Major focus will be amino acid and protein metabolism defects and carbohydrate disorders.Nowadays, for many of these disorders the risk of an acute presentation triggered by food has been decreased by the introduction of expanded newborn screening (NBS). Nevertheless, clinical suspicion remains essential because some IMDs do not have still reliable markers for NBS and a false negative screening result may occur.The aim of this review is to help pediatricians to take these rare inherited disorders into account in the differential diagnosis of acute or recurrent gastrointestinal symptoms related to food intake, which may avoid delayed diagnosis and potentially life-threatening consequences.

Non-IgE-Mediated Gastrointestinal Food Allergies in Children: An Update

“…Fever is not a common feature of FPIES, although it has been described in Japanese and Chinese studies, a phenotype that appears to be specific to these regions [72,135,138,139]. Monogenetic diseases, such as inborn errors of metabolism, primary immunodeficiencies, and cystic fibrosis, can also present with similar sepsis-like features and failure to thrive, and may not always be detected by newborn screening [140]. Mechanical obstruction caused by pyloric stenosis, intussusception, volvulus or Hirschsprung disease [141] may also present with acute and chronic vomiting, although in contrast to non-IgE-GI-FA, the symptoms will not be food-specific.…”

Avoiding Reactions Outside the Home: Challenges, Strategies, and Opportunities to Enhance Dining Out Experiences of People with Food Hypersensitivities

“…Food intolerance, food allergies, and celiac disease, all fall under the umbrella of food hypersensitivities as they consistently produce "reproducible symptoms or signs, initiated by exposure to a defined stimulus" in quantities that do not affect people without the condition [47]. Food intolerance is present when people have difficulties to digest certain food ingredients causing abnormal and unpleasant reactions on their bodies [20,56,59,103]. Food allergies are caused by an immune response to certain proteins in the food, confusing them with real threats [20,59,103].…”

“…Food intolerance is present when people have difficulties to digest certain food ingredients causing abnormal and unpleasant reactions on their bodies [20,56,59,103]. Food allergies are caused by an immune response to certain proteins in the food, confusing them with real threats [20,59,103]. Celiac disease is a food allergy in which the small intestine produces an immune response when gluten is present [65].…”

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery

“…Maines et al report clinical features and diagnostic aspects of the most common IMDs that may present with acute manifestations triggered by food intake [60]. Inherited metabolic disorders (IMDs) are a complex and heterogeneous group of rare monogenic disorders, usually resulting from a deficient activity in a single pathway of intermediary metabolism [61].…”