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Annals of Medicine and Surgery (2012) May 2023Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 () deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial...
UNLABELLED
Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 () deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction.
CASE PRESENTATION
At the age of 3, the patient was found to have movement problems, such as difficulty rising from a chair (Gower's sign) and climbing stairs, which led to hospital admission and diagnosis. At the age of 4, carrier detection for spinal muscular atrophy was normal; however, at the age of 5, whole-exome sequencing revealed a pathogenic variant of Chr1: 154960762: A>T c.A554T:p.D185V in exon-2 of gene was identified as homozygous.
CLINICAL DISCUSSION
In general, it is expected that the treatment of type 2 gene mutation with riboflavin has a better prognosis, but these interventions may not be sufficient for the survival of the patient. Treatment with riboflavin has increased various functions, including skeletal-muscular, and cardiovascular function. As a result, like the patient in our study, the mutation in exon-2 is more severe and less responsive to riboflavin treatment.
CONCLUSION
Checking the gene is recommended in all people with multiple acyl-CoA dehydrogenase deficiency.
PubMed: 37229023
DOI: 10.1097/MS9.0000000000000561 -
Biomedicines Apr 2023The number of people living with chronic kidney disease (CKD) is growing as our global population continues to expand. With aging, diabetes, and cardiovascular disease... (Review)
Review
The number of people living with chronic kidney disease (CKD) is growing as our global population continues to expand. With aging, diabetes, and cardiovascular disease being major harbingers of kidney disease, the number of people diagnosed with diabetic kidney disease (DKD) has grown concurrently. Poor clinical outcomes in DKD could be influenced by an array of factors-inadequate glycemic control, obesity, metabolic acidosis, anemia, cellular senescence, infection and inflammation, cognitive impairment, reduced physical exercise threshold, and, importantly, malnutrition contributing to protein-energy wasting, sarcopenia, and frailty. Amongst the various causes of malnutrition in DKD, the metabolic mechanisms of vitamin B (B1 (Thiamine), B2 (Riboflavin), B3 (Niacin/Nicotinamide), B5 (Pantothenic Acid), B6 (Pyridoxine), B8 (Biotin), B9 (Folate), and B12 (Cobalamin)) deficiency and its clinical impact has garnered greater scientific interest over the past decade. There remains extensive debate on the biochemical intricacies of vitamin B metabolic pathways and how their deficiencies may affect the development of CKD, diabetes, and subsequently DKD, and vice-versa. Our article provides a review of updated evidence on the biochemical and physiological properties of the vitamin B sub-forms in normal states, and how vitamin B deficiency and defects in their metabolic pathways may influence CKD/DKD pathophysiology, and in reverse how CKD/DKD progression may affect vitamin B metabolism. We hope our article increases awareness of vitamin B deficiency in DKD and the complex physiological associations that exist between vitamin B deficiency, diabetes, and CKD. Further research efforts are needed going forward to address the knowledge gaps on this topic.
PubMed: 37189771
DOI: 10.3390/biomedicines11041153 -
ACG Case Reports Journal May 2023Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder that can manifest with hepatic and muscular dysfunction. MADD can be fatal in...
Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder that can manifest with hepatic and muscular dysfunction. MADD can be fatal in neonates; however, late-onset MADD has a milder course and often becomes symptomatic during adulthood. A 20-year-old patient presented to the hepatology clinic with elevated liver enzymes and hepatomegaly. Several investigations including a liver biopsy were unremarkable. Subsequently, the patient developed rhabdomyolysis and nonketotic hypoglycemia raising suspicion for mitochondrial disorders. Plasma acylcarnitine levels performed showed elevated C4-C18:2 consistent with MADD. Although the patient denied a complete genetic evaluation, the patient had complete resolution of symptoms after riboflavin and diet modification.
PubMed: 37168503
DOI: 10.14309/crj.0000000000001036 -
Porcine Health Management May 2023Riboflavin deficiency can lead to premature farrowing, stillborn piglets, weak-born piglets and neonatal death. Riboflavin (vitamin B2) is considered essential for...
BACKGROUND
Riboflavin deficiency can lead to premature farrowing, stillborn piglets, weak-born piglets and neonatal death. Riboflavin (vitamin B2) is considered essential for reproductive function. The longer the period on riboflavin-deficient diets, the more severe the clinical signs become. Litter size as well as body size of piglets can also be considered risk factors that may contribute to the problem.
CASE PRESENTATION
This case report involved two organic farms of 320 (farm A) and 250 sows (farm B). Between 2019 and 2020, premature farrowing with weak-born or stillborn piglets and severe intra-litter mortality, ranging from 60 to 100% were observed. Investigations for infectious causes of reproductive disease, drinking water quality and general feed composition were performed, but showed no significant results. Feed composition was subsequently evaluated more in detail. Riboflavin levels were very low specifically 1.25 mg/kg of diet (3.75 mg/kg of diet is the NRC minimum recommended level). Riboflavin as a vitamin complex supplement (B complex) was administered to sows one month before the farrowing date and this led to a rapid improvement of the problem such that no stillbirth or intra-litter mortality was observed.
CONCLUSIONS
The clinical presentation, the low riboflavin levels in the feed below the recommended levels for gestating sows and the effectiveness of the riboflavin supplementation, led to an ex juvantibus diagnosis of this deficiency condition. This case report highlights that riboflavin deficiency during gestation should be considered in case of premature parturition and stillborn litters.
PubMed: 37143142
DOI: 10.1186/s40813-023-00308-y -
Journal of Pediatric Genetics Jun 2023Glutaric aciduria type 1 (GA-1) is a treatable inborn error of metabolism caused by glutaryl-CoA dehydrogenase deficiency. This enzyme deficiency leads to accumulation...
Glutaric aciduria type 1 (GA-1) is a treatable inborn error of metabolism caused by glutaryl-CoA dehydrogenase deficiency. This enzyme deficiency leads to accumulation of glutaric acid, 3-hydroxy glutaric acid, and glutaconic acid which are potentially neurotoxic. Patients with GA-1 have characteristic clinical and neuroimaging features that help us to clinch the diagnosis. Early diagnosis by newborn screening helps us to prevent the motor problems such as dystonia and spasticity. Treatment includes low-protein diet along with carnitine supplementation which may lead to deficiency of essential amino acids and hence malnutrition. Managing malnutrition in a child with inborn errors of metabolism (IEM) is challenging. Here, we describe a patient, a case of GA-1 on medical food, presenting with severe acute malnutrition, who improved with a combination of medical and home-made foods along with lysine-free, tryptophan-reduced amino acid supplements.
PubMed: 37090831
DOI: 10.1055/s-0041-1739288 -
Journal of Investigative Medicine High... 2023We are reporting monochorionic, diamniotic twin premature infants born at 25 weeks and 6 days gestation with riboflavin (vitamin B2) and biotin (vitamin B7) deficiency,...
Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition.
We are reporting monochorionic, diamniotic twin premature infants born at 25 weeks and 6 days gestation with riboflavin (vitamin B2) and biotin (vitamin B7) deficiency, while on prolonged total parenteral nutrition (TPN) during vitamin shortage. They presented initially with skin rash, lactic acidosis, and thrombocytopenia. Both twins progressed to severe respiratory failure, severe lactic acidosis, with refractory vasodilatory shock, pancytopenia, ischemic bowel injury, acute kidney injury, liver injury, and capillary leak syndrome leading to death of twin A. The surviving twin B was diagnosed with riboflavin and biotin deficiency that presented with abnormal metabolic work up suggestive of maple syrup urine disease, glutaric acidemia type 2, and X-linked adrenoleukodystrophy. Twin B was started on riboflavin and biotin supplementation at 41 days of life, with rapid improvement in clinical findings and laboratory abnormalities within days of starting biotin and riboflavin supplementation. He was discharged home in stable condition at 49 weeks of postmenstrual age.
Topics: Male; Infant, Newborn; Infant; Humans; Acidosis, Lactic; Biotin; Thiamine Deficiency; Parenteral Nutrition; Infant, Premature; Riboflavin; Vitamins; Exanthema; Multiple Organ Failure
PubMed: 37085971
DOI: 10.1177/23247096231168111 -
Cureus Mar 2023Riboflavin transporter deficiency (RTD) is a rare genetic disorder that can have detrimental effects on the nervous system, causing progressive neurodegeneration. Here,...
Riboflavin transporter deficiency (RTD) is a rare genetic disorder that can have detrimental effects on the nervous system, causing progressive neurodegeneration. Here, we report the second case of RTD in Saudi Arabia. An 18-month-old boy presented to the otolaryngology clinic with six weeks history of progressive noisy breathing associated with drooling, choking, and difficulty in swallowing. Progressive regression of the child's motor and communicative abilities was reported as well. Upon examination, the child had biphasic stridor, chest retractions, bilateral facial palsy, and hypotonia. The presence of an aerodigestive foreign body or congenital anomalies was excluded using bronchoscopy and esophagoscopy. Empirical high-dose riboflavin replacement therapy was initiated upon anticipation of diagnosis. Whole exome sequencing revealed a gene mutation, which confirmed the diagnosis of RTD. After a period of intensive care unit (ICU) admission with endotracheal intubation, the child's general condition improved, and he was weaned off of respiratory support. Tracheostomy was avoided in this patient, as he responded to riboflavin replacement therapy. During the disease course, an audiological assessment revealed severe bilateral sensorineural hearing loss. He was discharged home on gastrostomy feeding owing to the risk of frequent aspiration, and he was regularly followed up by the swallowing team. The early initiation of high-dose riboflavin replacement appears to be of great value. The benefits of cochlear implants in RTD have been reported, but not fully established. This case report will increase awareness in the otolaryngology community about patients with this rare disease who might initially present to the clinic with an otolaryngology-related complaint.
PubMed: 37077589
DOI: 10.7759/cureus.36312 -
Molecular Syndromology Apr 2023Succinate dehydrogenase deficiency, also known as mitochondrial complex II deficiency, is a rare inborn error of metabolism, accounting for approximately 2% of...
INTRODUCTION
Succinate dehydrogenase deficiency, also known as mitochondrial complex II deficiency, is a rare inborn error of metabolism, accounting for approximately 2% of mitochondrial disease. Mutations in the four genes and have been reported resulting in diverse clinical presentations. The vast majority of clinically affected individuals reported in the literature harbor genetic variants within the gene and present with a Leigh syndrome phenotype, clinically defined as a subacute necrotizing encephalopathy.
CASE REPORT
Herein, we report the first case of a 7-year-old child who was diagnosed as having succinate dehydrogenase deficiency. The affected child presented at 1 year of age with encephalopathy and developmental regression following viral illnesses. MRI changes supported a clinical diagnosis of Leigh syndrome and c.1328C>Q and c.872A>C variants were identified as compound heterozygous. Mitochondrial cocktail treatment including L-carnitine, riboflavin, thiamine, biotin, and ubiquinone was started. Mild clinical improvement was observed after treatment. He is now unable to walk and speak. The second patient, a 21-year-old woman, presented with generalized muscle weakness, easy fatigability, and cardiomyopathy. Investigations revealed increased lactate level of 67.4 mg/dL (4.5-19.8) with repeatedly increased plasma alanine levels 1,272 µmol/L (200-579). We administered carnitine, coenzyme, riboflavin, and thiamine for empirical therapy with the suspicion of mitochondrial disease. Clinical exome sequencing revealed compound heterozygous variants NM_004168.4:c.1945_1946del (p.Leu649GlufsTer4) at exon 15 of the gene and NM_004168.4:c.1909-12_1909-11del at intron 14 of gene.
DISCUSSION AND CONCLUSION
There are several very different presentations including Leigh syndrome, epileptic encephalopathy, and cardiomyopathy. Some cases present following viral illness; this feature is not specific to mitochondrial complex II deficiency and occurs in many other mitochondrial disease presentations. There is no cure for complex II deficiency, though some reported patients showed clinical improvement following riboflavin therapy. Riboflavin is not the only therapeutic intervention that is available to patients with an isolated complex II deficiency and various other compounds have shown promise in the treatment of symptoms, including L-carnitine and ubiquinone. Treatment alternatives such as parabenzoquinone EPI-743 and rapamycin are under study in the treatment of the disease.
PubMed: 37064335
DOI: 10.1159/000527538 -
Dermatology Reports Mar 2023Irregularities of vitamin levels are being increasingly identified associated with skin conditions, and systemic and topical therapies have shown promising improvements....
Irregularities of vitamin levels are being increasingly identified associated with skin conditions, and systemic and topical therapies have shown promising improvements. There have been some remarkable improvements achieved, but large variations in outcomes suggest that these conditions are not simply related to a single deficiency or solved by providing a single supplement. Cyanocobalamin, pyridoxine (B6) and riboflavin (B2) supplementation were linked with exacerbating existing acne. There were also reports of allergic reactions to parenteral cobalamin including acne, rosacea, allergic site reactions or anaphylaxis with cobalamin injections. This was also reported in patients who had allergic contact dermatitis to cobalt, where cobalamin therapy resulted in cutaneous manifestations such as chronic vesicular hand dermatitis, cheilitis and stomatitis. The use of niacinamide in acne vulgaris as an alternative to clindamycin or adjunct is also notable, as well as its application for hyperpigmentation. Vitamin B3 also has promise in chemoprevention in particular nonmelanoma skin cancer prophylaxis. Folic acid has a developing role in psoriasis. The data for vitiligo remains inconclusive. Assessment for potential vitamin deficiency, particularly B vitamins, should form part of the normal work-up for a wide range of skin conditions.
PubMed: 37063401
DOI: 10.4081/dr.2022.9511 -
Nutrients Mar 2023Inadequate nutritional intake is common, especially among elderly individuals. Although micronutrient intake may help fill nutritional gaps, the effects of multi-vitamin...
Inadequate nutritional intake is common, especially among elderly individuals. Although micronutrient intake may help fill nutritional gaps, the effects of multi-vitamin and mineral supplements (MVMS) among the Korean elderly are not well known. Therefore, we investigated the nutrition-improving effects of a single MVMS. A total of 2478 people aged ≥65 years who participated in the Korea National Health and Nutrition Survey 2018-2020 were analyzed. Nutrient intake from food and supplements was measured using the 24 h recall method. We compared the nutritional intake and insufficiency between the food-only group ( = 2170) and the food and MVMS group ( = 308). We also evaluated the differences in inadequate nutritional intake after taking MVMS with food. The analysis included vitamins A and C, thiamine, riboflavin, niacin, calcium, iron, and phosphorus. The proportion of insufficient intake ranged from 6.2% to 80.5% for men and from 21.2% to 82.4% for women, depending on the nutrients. Intake of MVMS with food was associated with lower rates of inadequacy (3.8-68.5% for men and 3.3-75.5% for women) compared to the food-only group. The results suggest that micronutrient deficiency frequently occurs in the Korean elderly population and can be improved by MVMS intake.
Topics: Male; Humans; Aged; Female; Vitamins; Nutrition Surveys; Dietary Supplements; Eating; Minerals; Republic of Korea; Diet
PubMed: 37049402
DOI: 10.3390/nu15071561