Inborn Errors of Metabolism (IEM) are defined as biochemical alterations of genetic origin caused by a specific defect in the structure and function of a protein, Individually, they are rare diseases, but, as a whole, they can affect 1:500 live births. Until a few years ago, most were lethal or produced serious sequelae. At present, although many of them generate life-threatening conditions, there are an increasing number of treatments available, which are not curative but do allow for an acceptable quality of life.
The IEM that interfere, among others, with the metabolism of proteins, fats, and carbohydrates, can be divided from the pathophysiological point of view into 3 groups:
1. alterations in intermediary metabolism (that give rise to a picture of intoxication and include disorders of amino acid metabolism, most organic acidurias, carbohydrate intolerance, urea cycle and fatty acid ß-oxidation defects, galactosemias, and porphyrias),
2. primary affectations in energy metabolism (glycogenosis, disorders of gluconeogenesis, ketogenesis and ketolysis, hyperinsulinism, abnormalities of creatine metabolism, errors of the pentose-P pathway, deficiencies of purine and pyrimidine metabolism, and IEMs affecting phosphorylation mitochondrial oxidative (OXPHOS), which lead to a deficit in ATP synthesis), and
3. disorders in the metabolism of complex molecules (peroxisomal diseases, lysosomal diseases, congenital disorders of glycosylation and inborn errors of cholesterol synthesis, and other IEM affecting receptors, membrane transporters (e.g. cystinurias, GLUT deficiencies), and channelopathies.
Nutritional and dietary treatment is the fundamental mainstay of the overall management of IEM that affect intermediary metabolism and some energy metabolism, to keep the disease under control, but it can also allow other patients to receive their specific treatment in the best possible conditions.
In the first group, diet is a key element to prevent complications, especially neurological ones. The precise treatment in the metabolism of proteins, lipids and carbohydrates in these patients is essential to avoid metabolic decompensation, which can have serious consequences at the multi-organ level and even death. Dietary adherence must be sought. At the same time, the diets prescribed for IEM must be personalized, considering the greater or lesser severity of the disease, the clinical status of the patient, their tolerance, age, and neurodevelopment. However, despite the advances in recent years, this diet and nutritional therapy is sometimes very complex and difficult to comply with, requiring strict evolutionary control that is not always well known.
This Research Topic therefore welcomes original research, reviews, meta-analyses, and case reports with the aim to explore:
• Nutritional management of IEM and keeping the underlying disease in control.
• Role of specific diets and nutrition regimes (e.g., ketogenic diet) in IEM management.
• Improving adherence to nutritional guidance in IEM patients.
• The relationship between nutritional status and assessment, and specific IEMs including identifying the best biomarkers for follow-up.
• How we can improve the nutritional composition of specific products for IEM patients that mean an improvement in the evolution of the disease.
• Regarding the metabolic disease of intermediary metabolism, how we can identify, prevent, and treat alterations in energy, vitamin, and mineral intake.
• The role of multidisciplinary teams in care of IEM patients and the importance of providing families with adequate nutritional (and disease) education.
• Relevance of the clinical guidelines agreed in management of IEM.
• Role of the microbiota in IEM development, management, and prognosis.
• Relationship between Breastfeeding and IEM.
• Evaluation of neurological development in IEM.
• Assessment and interventions for normal weight-height development in IEM patients.
• Role of early artificial nutritional support (e.g., gastrostomy if necessary) in IEM patients.
• Relevance of physical activity and nutrition at the muscular level in IEM management.
• Interventions in metabolic pathways affected by small molecules (anaplerosis).
Inborn Errors of Metabolism (IEM) are defined as biochemical alterations of genetic origin caused by a specific defect in the structure and function of a protein, Individually, they are rare diseases, but, as a whole, they can affect 1:500 live births. Until a few years ago, most were lethal or produced serious sequelae. At present, although many of them generate life-threatening conditions, there are an increasing number of treatments available, which are not curative but do allow for an acceptable quality of life.
The IEM that interfere, among others, with the metabolism of proteins, fats, and carbohydrates, can be divided from the pathophysiological point of view into 3 groups:
1. alterations in intermediary metabolism (that give rise to a picture of intoxication and include disorders of amino acid metabolism, most organic acidurias, carbohydrate intolerance, urea cycle and fatty acid ß-oxidation defects, galactosemias, and porphyrias),
2. primary affectations in energy metabolism (glycogenosis, disorders of gluconeogenesis, ketogenesis and ketolysis, hyperinsulinism, abnormalities of creatine metabolism, errors of the pentose-P pathway, deficiencies of purine and pyrimidine metabolism, and IEMs affecting phosphorylation mitochondrial oxidative (OXPHOS), which lead to a deficit in ATP synthesis), and
3. disorders in the metabolism of complex molecules (peroxisomal diseases, lysosomal diseases, congenital disorders of glycosylation and inborn errors of cholesterol synthesis, and other IEM affecting receptors, membrane transporters (e.g. cystinurias, GLUT deficiencies), and channelopathies.
Nutritional and dietary treatment is the fundamental mainstay of the overall management of IEM that affect intermediary metabolism and some energy metabolism, to keep the disease under control, but it can also allow other patients to receive their specific treatment in the best possible conditions.
In the first group, diet is a key element to prevent complications, especially neurological ones. The precise treatment in the metabolism of proteins, lipids and carbohydrates in these patients is essential to avoid metabolic decompensation, which can have serious consequences at the multi-organ level and even death. Dietary adherence must be sought. At the same time, the diets prescribed for IEM must be personalized, considering the greater or lesser severity of the disease, the clinical status of the patient, their tolerance, age, and neurodevelopment. However, despite the advances in recent years, this diet and nutritional therapy is sometimes very complex and difficult to comply with, requiring strict evolutionary control that is not always well known.
This Research Topic therefore welcomes original research, reviews, meta-analyses, and case reports with the aim to explore:
• Nutritional management of IEM and keeping the underlying disease in control.
• Role of specific diets and nutrition regimes (e.g., ketogenic diet) in IEM management.
• Improving adherence to nutritional guidance in IEM patients.
• The relationship between nutritional status and assessment, and specific IEMs including identifying the best biomarkers for follow-up.
• How we can improve the nutritional composition of specific products for IEM patients that mean an improvement in the evolution of the disease.
• Regarding the metabolic disease of intermediary metabolism, how we can identify, prevent, and treat alterations in energy, vitamin, and mineral intake.
• The role of multidisciplinary teams in care of IEM patients and the importance of providing families with adequate nutritional (and disease) education.
• Relevance of the clinical guidelines agreed in management of IEM.
• Role of the microbiota in IEM development, management, and prognosis.
• Relationship between Breastfeeding and IEM.
• Evaluation of neurological development in IEM.
• Assessment and interventions for normal weight-height development in IEM patients.
• Role of early artificial nutritional support (e.g., gastrostomy if necessary) in IEM patients.
• Relevance of physical activity and nutrition at the muscular level in IEM management.
• Interventions in metabolic pathways affected by small molecules (anaplerosis).