scholarly journals Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

2020 ◽  
Vol 21 (11) ◽  
pp. 3847 ◽  
Author(s):  
Signe Mosegaard ◽  
Graziana Dipace ◽  
Peter Bross ◽  
Jasper Carlsen ◽  
Niels Gregersen ◽  
...  
Keyword(s):  
Human Health ◽  
Stress Responses ◽  
Crucial Role ◽  
Inborn Errors Of Metabolism ◽  
Flavin Mononucleotide ◽  
Riboflavin Deficiency ◽  
Inborn Errors ◽  
Physiological Factors ◽  
Mitochondrial Energy Metabolism

As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with abundant sources of riboflavin-rich dietary products. A latent subclinical riboflavin deficiency can result in a significant clinical phenotype when combined with inborn genetic disturbances or environmental and physiological factors like infections, exercise, diet, aging and pregnancy. Riboflavin, and more importantly its derivatives, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), play a crucial role in essential cellular processes including mitochondrial energy metabolism, stress responses, vitamin and cofactor biogenesis, where they function as cofactors to ensure the catalytic activity and folding/stability of flavoenzymes. Numerous inborn errors of flavin metabolism and flavoenzyme function have been described, and supplementation with riboflavin has in many cases been shown to be lifesaving or to mitigate symptoms. This review discusses the environmental, physiological and genetic factors that affect cellular riboflavin status. We describe the crucial role of riboflavin for general human health, and the clear benefits of riboflavin treatment in patients with inborn errors of metabolism.

scholarly journals Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 479
Author(s):  
Elizabeth L. Lieu ◽  
Neil Kelekar ◽  
Pratibha Bhalla ◽  
Jiyeon Kim
Keyword(s):  
Metabolic Disease ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Treatment Options ◽  
Biochemical Properties ◽  
Biological Molecules ◽  
Diagnostic Tools ◽  
Inborn Errors ◽  
Mannose Metabolism

History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common foods and onto kitchen tables, is sucrose, which is made up of glucose and fructose dimers. While sugar is commonly associated with flavor, there is a myriad of biochemical properties that explain how sugars as biological molecules function in physiological contexts. Substantial research and reviews have been done on the role of glucose in disease. This review aims to describe the role of its isomers, fructose and mannose, in the context of inborn errors of metabolism and other metabolic diseases, such as cancer. While structurally similar, fructose and mannose give rise to very differing biochemical properties and understanding these differences will guide the development of more effective therapies for metabolic disease. We will discuss pathophysiology linked to perturbations in fructose and mannose metabolism, diagnostic tools, and treatment options of the diseases.

scholarly journals 1275 NEW ROLE OF COMPUTERIZED TOMOGRAPHY IN THE ASSESSMENT OF INBORN ERRORS OF METABOLISM

1985 ◽  
Vol 19 (4) ◽  
pp. 323A-323A
Author(s):  
Chester B Whitley ◽  
Deborah Day ◽  
Kathyrn L Pelant ◽  
William Krivit
Keyword(s):  
Computerized Tomography ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

The role of the Human Metabolome Database in inborn errors of metabolism

2018 ◽  
Vol 41 (3) ◽  
pp. 329-336 ◽  
Author(s):  
Rupasri Mandal ◽  
Danuta Chamot ◽  
David S. Wishart
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Inborn Errors

The Role of L-Carnitine in Pediatric Cardiomyopathy

1995 ◽  
Vol 10 (2_suppl) ◽  
pp. 2S45-2S51 ◽  
Author(s):  
Susan Winter ◽  
Kenneth Jue ◽  
James Prochazka ◽  
Paul Francis ◽  
Wade Hamilton ◽  
...  
Keyword(s):  
Energy Production ◽  
Inborn Errors Of Metabolism ◽  
Genetic Factors ◽  
Myocardial Dysfunction ◽  
Essential Element ◽  
Carnitine Deficiency ◽  
Inborn Errors ◽  
Pediatric Cardiomyopathy ◽  
Traditional Therapies

Metabolic and genetic factors underlie some forms of cardiomyopathy in childhood. A variety of inborn errors of metabolism can impair mitochondrial energy production, or β-oxidation, in the heart and lead to myocardial dysfunction. L-Carnitine, an essential element of β-oxidation, transports fatty acids across the mitochondrial membrane for energy production. L-Carnitine deficiency syndromes are now well described as secondary to a variety of inborn errors of metabolism and often include cardiomyopathy in the clinical picture. Despite traditional therapies for cardiomyopathy, mortality for this disorder remains at well over 50%. Review of reports of L-carnitine supplementation studies and results from our own trial underscore the importance of its role in cardiac function and demonstrates that there is likely a subpopulation of patients with cardiomyopathy responsive to L-carnitine treatment. (J Child Neurol 1995; 10(Suppl):2S45-2S5 1).

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders

2001 ◽  
Vol 24 (2) ◽  
pp. 189-212 ◽  
Author(s):  
N. Gregersen ◽  
P. Bross ◽  
B. S. Andresen ◽  
C. B. Pedersen ◽  
T. J. Corydon ◽  
...  
Keyword(s):  
Quality Control ◽  
Protein Folding ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Protein Folding Disorders

scholarly journals The role of exome sequencing in newborn screening for inborn errors of metabolism

2020 ◽  
Vol 26 (9) ◽  
pp. 1392-1397 ◽  
Author(s):  
Aashish N. Adhikari ◽  
Renata C. Gallagher ◽  
Yaqiong Wang ◽  
Robert J. Currier ◽  
George Amatuni ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

scholarly journals Premature Calcifications of Costal Cartilages: A New Perspective

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Walter Rhomberg ◽  
Antonius Schuster
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Endocrine Disorders ◽  
Inborn Errors ◽  
Laboratory Findings ◽  
Random Samples ◽  
Plain Films ◽  
New Perspective ◽  
Medical Disciplines

Background. Calcifications of the costal cartilages occur, as a rule, not until the age of 30 years. The knowledge of the clinical significance of early and extensive calcifications is still incomplete.Materials and Methods. A search was made to find patients below the age of 30 years who showed distinct calcifications of their lower costal cartilages by viewing 360 random samples of intravenous pyelograms and abdominal plain films. The histories, and clinical and laboratory findings of these patients were analyzed.Results. Nineteen patients fulfilled the criteria of premature calcifications of costal cartilages (CCCs). The patients had in common that they were frequently referred to a hospital and were treated by several medical disciplines. Nevertheless many complaints of the patients remained unsolved. Premature CCCs were often associated with rare endocrine disorders, inborn errors of metabolism, and abnormal hematologic findings. Among the metabolic disorders there were 2 proven porphyrias and 7 patients with a suspected porphyria but with inconclusive laboratory findings.Conclusion. Premature CCCs are unlikely to be a normal variant in skeletal radiology. The findings in this small group of patients call for more intensive studies, especially in regard to the putative role of a porphyria.

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