Combined <scp>isobutyryl‐CoA</scp> and multiple <scp>acyl‐CoA</scp> dehydrogenase deficiency in a boy with altered riboflavin homeostasis

Tummolo, Albina; Leone, Piero; Tolomeo, Maria; Solito, Rita; Mattiuzzo, Matteo; Lepri, Francesca Romana; Lorè, Tania; Cardinali, Roberta; Giovanni, Donatella De; Simonetti, Simonetta; Barile, Maria

doi:10.1002/jmd2.12292

Cited by 8 publications

(3 citation statements)

References 70 publications

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“…The precise molecular mechanisms underpinning the flavo-enzyme variants described herein that lead to the range of late-onset riboflavin-responsive pathologies remains unclear. Very few individuals who exhibit riboflavin-responsiveness demonstrate riboflavin deficiency [ 86 , 87 ]. However, at least in part, FAD appears to function as a chemical chaperone that is important for correct flavo-enzyme folding and stability.…”

Section: Mechanisms Of Riboflavin Responsiveness In Adult-onset Diseasementioning

confidence: 99%

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

Murgia,

Dehlia,

Guthridge

2023

Nutr Metab (Lond)

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Riboflavin, or vitamin B2, is an essential nutrient that serves as a precursor to flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). The binding of the FAD and/or FMN cofactors to flavoproteins is critical for regulating their assembly and activity. There are over 90 proteins in the human flavoproteome that regulate a diverse array of biochemical pathways including mitochondrial metabolism, riboflavin transport, ubiquinone and FAD synthesis, antioxidant signalling, one-carbon metabolism, nitric oxide signalling and peroxisome oxidative metabolism. The identification of patients with genetic variants in flavoprotein genes that lead to adult-onset pathologies remains a major diagnostic challenge. However, once identified, many patients with adult-onset inborn errors of metabolism demonstrate remarkable responses to riboflavin therapy. We review the structure:function relationships of mutant flavoproteins and propose new mechanistic insights into adult-onset riboflavin-responsive pathologies and metabolic dysregulations that apply to multiple biochemical pathways. We further address the vexing issue of how the inheritance of genetic variants in flavoprotein genes leads to an adult-onset disease with complex symptomologies and varying severities. We also propose a broad clinical framework that may not only improve the current diagnostic rates, but also facilitate a personalized approach to riboflavin therapy that is low cost, safe and lead to transformative outcomes in many patients.

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Section: Mechanisms Of Riboflavin Responsiveness In Adult-onset Diseasementioning

confidence: 99%

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

Murgia,

Dehlia,

Guthridge

2023

Nutr Metab (Lond)

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“…These findings are indicative of an inadequate riboflavin status. Since functional and direct biomarkers can be used in clinical practice to evaluate the levels of these two vitamins [75,76], it is necessary to reevaluate the patients' pyridoxine and riboflavin status.…”

Section: Imds Requiring Special Dietsmentioning

confidence: 99%

“…In other IMDs, mainly of intermediary metabolism, such as glycogen storage diseases and disorders of mitochondrial energy supply, supplementation with ketone bodies may ameliorate clinical symptoms and laboratory parameters [76,103,104].…”

Section: Imd Requiring Ketogenic Dietmentioning

confidence: 99%

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

Tummolo,

Carella,

De Giovanni

et al. 2023

IJMS

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Many inherited metabolic disorders (IMDs), including disorders of amino acid, fatty acid, and carbohydrate metabolism, are treated with a dietary reduction or exclusion of certain macronutrients, putting one at risk of a reduced intake of micronutrients. In this review, we aim to provide available evidence on the most common micronutrient deficits related to specific dietary approaches and on the management of their deficiency, in the meanwhile discussing the main critical points of each nutritional supplementation. The emerging concepts are that a great heterogeneity in clinical practice exists, as well as no univocal evidence on the most common micronutrient abnormalities. In phenylketonuria, for example, micronutrients are recommended to be supplemented through protein substitutes; however, not all formulas are equally supplemented and some of them are not added with micronutrients. Data on pyridoxine and riboflavin status in these patients are particularly scarce. In long-chain fatty acid oxidation disorders, no specific recommendations on micronutrient supplementation are available. Regarding carbohydrate metabolism disorders, the difficult-to-ascertain sugar content in supplementation formulas is still a matter of concern. A ketogenic diet may predispose one to both oligoelement deficits and their overload, and therefore deserves specific formulations. In conclusion, our overview points out the lack of unanimous approaches to micronutrient deficiencies, the need for specific formulations for IMDs, and the necessity of high-quality studies, particularly for some under-investigated deficits.

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Upregulation of SLC25A32 in Tumorous Tissues of Patients with Non-Metastatic Colorectal Cancer: A Pilot Study

Hashemi,

Tahmasebi-Birgani,

Talaiezadeh

et al. 2024

Ind J Clin Biochem

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Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

Cited by 8 publications

References 70 publications

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

Upregulation of SLC25A32 in Tumorous Tissues of Patients with Non-Metastatic Colorectal Cancer: A Pilot Study

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