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Vitamins
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Another rare metabolic defect is a biotinidase deficiency, in which additional biotin is needed in the diet. Biotin is a cofactor for the enzymatic carboxylation of pyruvate, acetyl CoA, propionyl CoA, and beta methyl crotonyl CoA. Biotin is important in carbohydrate and fat metabolism. Biotinidase deficiency presents in the neonatal period or infancy with delayed development, seizures, defective immunity, and alopecia. Infants may have elevated organic acids in their urine (7,9).
Brittle Nails
Published in Nilton Di Chiacchio, Antonella Tosti, Therapies for Nail Disorders, 2020
Biotin is a water-soluble vitamin component of the B complex that acts as a coenzyme for several human carboxylases. Biotin deficiency is exceedingly rare and may be inherited or acquired. Acquired forms may occur in cases of severe malnutrition, total parenteral nutrition without biotin supplementation, long-term anticonvulsant or antibiotic therapy, and ingestion of raw egg whites. Inherited conditions include biotinidase deficiency and multiple carboxylase deficiency.
Additional Supplements That Support Glycemic Control and Reduce Chronic Inflammation
Published in Robert Fried, Richard M. Carlton, Type 2 Diabetes, 2018
Robert Fried, Richard M. Carlton
Patients with biotinidase deficiency (BTD), a metabolic disorder due to either low concentration or complete lack of the enzyme biotinidase, are treated with biotin doses that exceed the normal dietary intake by 300 times. This does not produce frank signs of toxicity (Wolf and Heard. 1991).
Neuro-Ophthalmic Literature Review
Published in Neuro-Ophthalmology, 2023
David A. Bellows, Noel C.Y. Chan, John J. Chen, Hui-Chen Cheng, Peter W MacIntosh, Collin McClelland, Michael S. Vaphiades, Konrad P. Weber, Xiaojun Zhang
There has been increasing recognition of genetic diseases that can cause magnetic resonance imaging (MRI) changes that mimic central nervous system (CNS) inflammatory disorders. While most of these manifest in childhood, there are some genetic diseases that can present in adulthood and cause significant diagnostic uncertainty. In this recent review in JAMA Neurology, Aryignac et al. discuss the most common adult-onset genetic diseases that can be confused with acquired neuroinflammatory disorders including genetic leukodystrophies, retinal vasculopathy with cerebral leukoencephalopathy (RVCL), Alexander’s disease, cytotoxic T-lymphocyte-associated protein haploinsufficiency, familial haemophagocytic lymphohistiocytosis, and biotinidase deficiency. Table 1 is especially helpful in summarising the MRI findings and suggestive features. Among these diseases, RVCL and biotinidase deficiency are the most likely to present in the neuro-ophthalmology clinic because their presenting symptom can be visual loss. RVCL is an autosomal dominant inflammatory microangiopathy caused by TREX1 gene mutations, which causes a vascular retinopathy, in addition to cognitive impairment, psychiatric symptoms, seizures, and focal neurological deficits. Biotinidase deficiency is an autosomal recessive disease that causes subacute bilateral optic neuropathy with central vision loss that can be accompanied by a myelopathy with longitudinal T2 lesions in the spinal cord.
Sense and nonsense concerning biotin interference in laboratory tests
Published in Acta Clinica Belgica, 2022
Alena Moerman, Joris R. Delanghe
Biotin is a water soluble vitamin/micronutrient and a coenzyme to 5 carboxylases. It is also covalently bound to lysine residues in histones. Because of this, it plays a role in the epigenetic regulation of genes, the structure of chromatin and cell signaling. Mammals cannot produce biotin and are consequently fully dependent on intake through the nutrition. Normal daily intake in western countries ranges from 35 to 70 µg per day, which lies above the daily recommended 5 to 35 µg. Our western intake pattern results in serum concentrations ranging from 0.12 to 0.36 nmol/L [4]. Rarely, people can be deficient in biotin. This shortage occurs in biotinidase deficiency (1/60089 living births) and severely malnourished children. Treatment of such a deficiency consists of 5 to 30 mg biotin per day. Biotin-thiamin-responsive basal ganglia disease is a condition that affects the nervous system. This is also treated with high dose biotin, namely 5 to 10 mg per day. In conclusion, it is unnecessary for healthy subjects to use biotin supplements. However, marketeers have made convenient use of the property of biotin to promote protein synthesis and thereby also keratin production. Supplements are available in all seizes and weights with concentrations ranging from 50 µg in multivitamin preparations to 20 mg in preparations specifically targeting growth and quality of hair and nails. Proof of this claims is however lacking, with only very little scientific evidence of any beneficial effect [5,6].
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
Published in Expert Review of Neurotherapeutics, 2020
Marcello Scala, Amedeo Bianchi, Francesca Bisulli, Antonietta Coppola, Maurizio Elia, Marina Trivisano, Dario Pruna, Tommaso Pippucci, Laura Canafoglia, Simona Lattanzi, Silvana Franceschetti, Carlo Nobile, Antonio Gambardella, Roberto Michelucci, Federico Zara, Pasquale Striano
Standard laboratory tests should always be performed in patients with epilepsy with drug-resistant seizures, especially if developmental delay or progressive neurological deterioration is associated [22]. Indeed, a comprehensive metabolic workup might reveal an underlying metabolic condition with a possible etiology-specific treatment. An early diagnosis and a timely start of the most appropriate treatment are essential in the management of treatable metabolic epilepsy syndromes, allowing to stabilize or reverse neurological and systemic symptoms [22,23]. In particular, standard laboratory tests (blood glucose, electrolytes, and ammonia) should be supported by a first-line metabolic screening including plasma and urine amino acid levels, urine organic acids, blood spot acylcarnitine profile, and urine creatine/creatinine ratio [23]. If a specific disorder is suspected according to the patient’s electroclinical features, second-line tests can be performed. As an example, the dosage of plasma and urine biotin as well as the analysis of serum biotinidase enzyme activity may be fundamental to diagnose the underlying metabolic disorder in a child developing seizures, neuro-ophthalmological, and cutaneous manifestations in the first months of life [23]. In this case, an early diagnosis of biotinidase deficiency allows to start a prompt biotin supplementation (5–20 mg/day), which leads to seizure control, stabilization of neurological complications, and reversal of neuroradiological abnormalities [23,24].