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Frontiers in Pediatrics 2024Riboflavin transporter deficiency (RTD) is a rare genetic disorder that affects riboflavin transport, leading to impaired red blood cell production and resulting in pure...
INTRODUCTION
Riboflavin transporter deficiency (RTD) is a rare genetic disorder that affects riboflavin transport, leading to impaired red blood cell production and resulting in pure red cell aplasia. Recognizing and understanding its clinical manifestations, diagnosis, and management is important.
CASE PRESENTATION
A 2-year-old patient presented with pure red cell aplasia as the primary symptom of RTD. After confirming the diagnosis, rapid reversal of anemia was achieved after high-dose riboflavin treatment.
CONCLUSION
RTD often has an insidious onset, and neurological symptoms appear gradually as the disease progresses, making it prone to misdiagnosis. Genetic testing and bone marrow biopsy can confirm the diagnosis.
PubMed: 38694724
DOI: 10.3389/fped.2024.1391245 -
The ISME Journal Jan 2024The endosymbiosis between the pathogenic fungus Rhizopus microsporus and the toxin-producing bacterium Mycetohabitans rhizoxinica represents a unique example of host...
The endosymbiosis between the pathogenic fungus Rhizopus microsporus and the toxin-producing bacterium Mycetohabitans rhizoxinica represents a unique example of host control by an endosymbiont. Fungal sporulation strictly depends on the presence of endosymbionts as well as bacterially produced secondary metabolites. However, an influence of primary metabolites on host control remained unexplored. Recently, we discovered that M. rhizoxinica produces FO and 3PG-F420, a derivative of the specialized redox cofactor F420. Whether FO/3PG-F420 plays a role in the symbiosis has yet to be investigated. Here, we report that FO, the precursor of 3PG-F420, is essential to the establishment of a stable symbiosis. Bioinformatic analysis revealed that the genetic inventory to produce cofactor 3PG-F420 is conserved in the genomes of eight endofungal Mycetohabitans strains. By developing a CRISPR/Cas-assisted base editing strategy for M. rhizoxinica, we generated mutant strains deficient in 3PG-F420 (M. rhizoxinica ΔcofC) and in both FO and 3PG-F420 (M. rhizoxinica ΔfbiC). Co-culture experiments demonstrated that the sporulating phenotype of apo-symbiotic R. microsporus is maintained upon reinfection with wild-type M. rhizoxinica or M. rhizoxinica ΔcofC. In contrast, R. microsporus is unable to sporulate when co-cultivated with M. rhizoxinica ΔfbiC, even though the fungus was observed by super-resolution fluorescence microscopy to be successfully colonized. Genetic and chemical complementation of the FO deficiency of M. rhizoxinica ΔfbiC led to restoration of fungal sporulation, signifying that FO is indispensable for establishing a functional symbiosis. Even though FO is known for its light-harvesting properties, our data illustrate an important role of FO in inter-kingdom communication.
Topics: Symbiosis; Rhizopus; Spores, Fungal; Flavins; CRISPR-Cas Systems; Riboflavin
PubMed: 38691425
DOI: 10.1093/ismejo/wrae074 -
Plant Physiology and Biochemistry : PPB May 2024Riboflavins are secreted under iron deficiency as a part of the iron acquisition Strategy I, mainly when the external pH is acidic. In plants growing under Fe-deficiency...
Riboflavins are secreted under iron deficiency as a part of the iron acquisition Strategy I, mainly when the external pH is acidic. In plants growing under Fe-deficiency and alkaline conditions, riboflavins have been reported to accumulate inside the roots, with very low or negligible secretion. However, the fact that riboflavins may undergo hydrolysis under alkaline conditions has been so far disregarded. In this paper, we report the presence of riboflavin derivatives and products of their alkaline hydrolysis (lumichrome, lumiflavin and carboxymethylflavin) in nutrient solutions of Cucumis sativus plants grown under different iron regimes (soluble Fe-EDDHA in the nutrient solution, total absence of iron in the nutrient solution, or two different doses of FeSO supplied as a foliar spray), either cultivated in slightly acidic (pH 6) or alkaline (pH 8.8, 10 mM bicarbonate) nutrient solutions. The results show that root synthesis and exudation of riboflavins is controlled by shoot iron status, and that exuded riboflavins undergo hydrolysis, especially at alkaline pH, with lumichrome being the main product of hydrolysis.
Topics: Plant Roots; Hydrolysis; Cucumis sativus; Iron Deficiencies; Riboflavin; Hydrogen-Ion Concentration; Stress, Physiological; Iron; Plant Exudates
PubMed: 38569423
DOI: 10.1016/j.plaphy.2024.108573 -
Voprosy Pitaniia 2024Despite the widespread use of oat β-glucans as ingredient of foods and dietary supplements, there is insufficient data on their effect on the metabolism of vitamins and...
Despite the widespread use of oat β-glucans as ingredient of foods and dietary supplements, there is insufficient data on their effect on the metabolism of vitamins and minerals. of the study was to evaluate the effect of including oat bran with a high content of β-glucans (β-glucan) in the diet on the absorption of micronutrients and lipid metabolism in growing rats deficient in vitamins D, group B and trace elements (iron, copper, zinc). . After the development of micronutrient deficiency (for 23 days), in order to assess the effect of oat bran (5%) with a high content of β-glucans on the correction of the micronutrient status of growing male Wistar rats (with initial body weight of 70.7±0.7 g), the missing micronutrients were introduced in the semi-synthetic diet deficient in vitamins D, group B, iron, copper and zinc within 7 days either along with β-glucan (1.47%) or without its addition. Indicators of micronutrient sufficiency (riboflavin serum concentration, daily urinary excretion of thiamine, riboflavin and 4-pyridoxic acid, measured by fluorometric methods; serum concentration and urinary excretion of calcium, magnesium, iron, zinc, copper, phosphorus, measured by the atomic absorption method or using standard methods on a biochemical analyzer) and the biochemical parameters of blood serum were compared with the parameters of rats adequately provided with all micronutrients throughout the experiment. . Replenishment of missing micronutrients in the diet of rats with deficiency in vitamins D and group B, iron, copper and zinc for 7 days led to the elimination of deficiency of vitamins B1, B2 and B6, regardless of the presence of β-glucans in the diet. At the same time, against the background of the presence of β-glucans in the feed, an increase in the absorption of iron was observed, as evidenced by an increase by 1.73 times in iron blood plasma level (р<0.05) and a tendency towards its urinary excretion decrease by 1.60 fold (р<0.10) compared to animals from the control group. Adding oat bran with β-glucans to the feed did not lead to a decrease in blood plasma level of total cholesterol and low-density lipoproteins cholesterol. The levels of high-density lipoprotein cholesterol and triglycerides in rats of all three groups did not have statistically significant differences. . The presence of β-glucans in the diet had virtually no effect on the absorption of B vitamins and improved the absorption of iron.
Topics: Male; Rats; Animals; Vitamin B Complex; Avena; Copper; Lipid Metabolism; Rats, Wistar; Minerals; Trace Elements; Thiamine; Diet; Riboflavin; Micronutrients; Iron; Zinc; Cholesterol; beta-Glucans
PubMed: 38555611
DOI: 10.33029/0042-8833-2024-93-1-72-79 -
Children (Basel, Switzerland) Feb 2024Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied...
BACKGROUND
Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages.
CASE REPORT
This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin.
SIGNIFICANCE
This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.
PubMed: 38539320
DOI: 10.3390/children11030285 -
Genes & Diseases Jul 2024
PubMed: 38515939
DOI: 10.1016/j.gendis.2023.06.038 -
BMJ Case Reports Mar 2024Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder which typically manifests with muscle weakness. However, despite late-onset MADD...
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder which typically manifests with muscle weakness. However, despite late-onset MADD being treatable, it is often misdiagnosed, due in part to the heterogeneity of presentations. We report a case of late-onset MADD manifesting first as a sensory neuropathy before progressing to myopathic symptoms and acute metabolic decompensation. Early diagnostic workup with acylcarnitine profiling and organic acid analysis was critical in patient outcome; metabolic decompensation and myopathic symptoms were completely reversed with riboflavin supplementation and dietary modification, although sensory neuropathy persisted. Clinical consideration of MADD as part of the differential diagnosis of neuropathy with myopathy is crucial for a timely diagnosis and treatment of MADD.
Topics: Humans; Acyl-CoA Dehydrogenase; Mutation; Electron-Transferring Flavoproteins; Peripheral Nervous System Diseases; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Riboflavin; Rare Diseases
PubMed: 38490702
DOI: 10.1136/bcr-2023-259192 -
Alarming levels of inadequate intake of B group vitamins in tribal lactating women from South India.Journal of Public Health Research Jan 2024Micronutrients are necessary for proper growth and development of the human body, though required in small amounts. Dietary intake of these micronutrients by lactating...
BACKGROUND
Micronutrients are necessary for proper growth and development of the human body, though required in small amounts. Dietary intake of these micronutrients by lactating women is essential for their own health as well as children's overall growth and development. objective of present study is to assess the adequacy of dietary B-group vitamins intake during lactation and to find out the factors associated with their inadequate intake.
DESIGN AND METHODS
It was a analysis of data from prospective cohort study for 10 months carried out among 340 Scheduled Tribes mothers in 10 clusters in Guntur district, Andhra Pradesh, India. Data collection was done using a 24 h dietary recall questionnaire. A -value less than 0.05 was considered to be statistically significant.
RESULTS
All the mothers ( = 340) were not having adequate intake of Thiamine, Riboflavin, Niacin, Pyridoxine, Pantothenic acid, Biotin and Folic acid. Methyl cobalamin intake was inadequate in 37.5% mothers ( = 136). The mean intake of Vitamin B12 was 40.98 + 42.8 (SD) µg/day. Age at marriage, location and parity were significantly associated with inadequate intake of Vitamin B12.
CONCLUSIONS
The current diet pattern of mothers of vulnerable groups might affect the growth and development of the infant. We strongly recommend for supplementation of B-group vitamins to pregnant and lactating women in India.
PubMed: 38476323
DOI: 10.1177/22799036241234036 -
Bioelectrochemistry (Amsterdam,... Jun 2024The primary objective of this study is to elucidate the synergistic effect of an exogenous redox mediator and carbon starvation on the microbiologically influenced...
The primary objective of this study is to elucidate the synergistic effect of an exogenous redox mediator and carbon starvation on the microbiologically influenced corrosion (MIC) of metal nickel (Ni) by nitrate reducing Pseudomonas aeruginosa. Carbon source (CS) starvation markedly accelerates Ni MIC by P. aeruginosa. Moreover, the addition of exogenous riboflavin significantly decreases the corrosion resistance of Ni. The MIC rate of Ni (based on corrosion loss volume) is ranked as: 10 % CS level + riboflavin > 100 % CS level + riboflavin > 10 % CS level > 100 % CS level. Notably, starved P. aeruginosa biofilm demonstrates greater aggressiveness in contributing to the initiation of surface pitting on Ni. Under CS deficiency (10 % CS level) in the presence of riboflavin, the deepest Ni pits reach a maximum depth of 11.2 μm, and the corrosion current density (i) peak at approximately 1.35 × 10 A·cm, representing a 2.6-fold increase compared to the full-strength media (5.25 × 10 A·cm). For the 10 % CS and 100 % CS media, the addition of exogenous riboflavin increases the Ni MIC rate by 3.5-fold and 2.9-fold, respectively. Riboflavin has been found to significantly accelerate corrosion, with its augmentation effect on Ni MIC increasing as the CS level decreases. Overall, riboflavin promotes electron transfer from Ni to P. aeruginosa, thus accelerating Ni MIC.
Topics: Pseudomonas aeruginosa; Nickel; Corrosion; Carbon; Riboflavin; Biofilms
PubMed: 38471411
DOI: 10.1016/j.bioelechem.2024.108679 -
Molecular Genetics and Metabolism... Mar 2024Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a...
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and respiratory insufficiency. Pathogenic variants in and are implicated in the pathogenesis of RTD type 2 and 3, respectively. Early identification of this disorder is critical, as it is treatable with riboflavin supplementation. We describe a 16-year-old female with a phenotype consistent with RTD3 found to have a novel heterozygous variant. Though RTD is typically considered an autosomal recessive condition, her heterozygous variant was thought to be disease causing after further genetic analysis and given her improvement in response to riboflavin supplementation. This case highlights the importance of reinterpretation of genetic testing, particularly when there is a high clinical suspicion for disease.
PubMed: 38469093
DOI: 10.1016/j.ymgmr.2024.101051