Vitamin B12, cobalamin, is indispensable for humans owing to its participation in two biochemical reactions: the conversion of l-methylmalonyl coenzyme A to succinyl coenzyme A, and the formation of methionine by methylation of homocysteine. Eukaryotes, encompassing plants, fungi, animals and humans, do not synthesise vitamin B12, in contrast to prokaryotes. Humans must consume it in their diet. The most important sources include meat, milk and dairy products, fish, shellfish and eggs. Due to this, vegetarians are at risk to develop a vitamin B12 deficiency and it is recommended that they consume fortified food. Vitamin B12 behaves differently to most vitamins of the B complex in several aspects, e.g. it is more stable, has a very specific mechanism of absorption and is stored in large amounts in the organism. This review summarises all its biological aspects (including its structure and natural sources as well as its stability in food, pharmacokinetics and physiological function) as well as causes, symptoms, diagnosis (with a summary of analytical methods for its measurement), prevention and treatment of its deficiency, and its pharmacological use and potential toxicity.

• MeSH
• Diet, Vegetarian MeSH
• Diet MeSH
• Food, Fortified MeSH
• Humans MeSH
• Vitamin B 12 Deficiency * diagnosis   prevention & control   drug therapy   etiology   MeSH
• Vitamin B 12 * pharmacokinetics   chemistry   metabolism   therapeutic use   physiology   adverse effects   administration & dosage   pharmacology   MeSH
• Animals MeSH
• Check Tag
• Humans MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

• MeSH
• Diet, Vegan * adverse effects   MeSH
• Diet, Vegetarian * adverse effects   MeSH
• Child MeSH
• Child Nutritional Physiological Phenomena * MeSH
• Adolescent Nutritional Physiological Phenomena * MeSH
• Iodine deficiency   MeSH
• Humans MeSH
• Adolescent MeSH
• Vitamin B 12 Deficiency etiology   drug therapy   MeSH
• Vitamin B 12 therapeutic use   MeSH
• Vitamin D therapeutic use   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH

• Keywords
• Wernicke-Korsakovův syndrom,
• MeSH
• Bariatric Surgery adverse effects   MeSH
• Adult MeSH
• Humans MeSH
• Thiamine Deficiency * drug therapy   complications   physiopathology   MeSH
• Thiamine therapeutic use   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Na Psychiatrickou kliniku LF MU a FN Brno byl přijat pacient pro diagnózu delirantního stavu nenasedajícího na demenci. Na základě doplnění anamnézy a dalšího došetřování bylo zjištěno, že příčinou tohoto stavu i přetrvávání části symptomů byla Wernickeova encefalopatie. Na základě této diagnózy mu byla nastavena léčba thiaminem, která dále vedla ke zlepšení stavu. Kvůli přetrvávání ataxie byl pacient dále přeložen na neurologicko-rehabilitační oddělení.

The patient was admitted to the Department of Psychiatry of Masaryk University and University Hospital Brno with a diagnosis of a delirious state not superimposed on dementia. Based on a more detailed medical history and another assessment, the cause of this state and of the duration of some symptoms was determined as Wernicke's encephalopathy. Treatment was adjusted accordingly using thiamine, which led to further improvement of the patient's condition. Due to persistent ataxia, the patient was subsequently transferred to the neurology rehabilitation department.

• MeSH
• Ataxia diagnosis   MeSH
• Delirium diagnosis   MeSH
• Diet * adverse effects   MeSH
• Middle Aged MeSH
• Humans MeSH
• Thiamine administration & dosage   therapeutic use   MeSH
• Vitamin B Complex administration & dosage   therapeutic use   MeSH
• Wernicke Encephalopathy * diagnosis   etiology   drug therapy   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Deficit transportu riboflavinu (RTD), známý také jako Brown-Vialetto-van Laere syndrom, je vzácné onemocnění, které na základě poruchy oxidativního metabolizmu vede k úbytku neuronů v jádrech hlavových i periferních nervů. Projevy jsou ztráta svalové síly, ptóza očního víčka, bulbární syndrom a respirační potíže doprovázené těžkou postsynaptickou sluchovou neuropatií. Je-li projeven v dětském věku, vede k úmrtí pro respirační selhání v řádu měsíců až let. Na prezentovaném případu familiárního výskytu u sourozenců je demonstrována nutnost rychlého zahájení substituční léčby riboflavinem, která může předejít rozvoji onemocnění nebo alespoň zmírnit jeho projevy a zvýšit šanci na úspěšnou rehabilitaci sluchu. Při záchytu sluchové neuropatie u dětí doporučujeme vyšetření multigenového NGS/MPS panelu, který zahrnuje i vzácnější příčiny vrozené poruchy sluchu. V případě výskytu jakéhokoli dalšího příznaku onemocnění je třeba neprodleně zahájit substituční léčbu.

Riboflavin transporter deficiency (RTD) is rare disease characterized by progressive loss of cranial and somatic nerve function. Typically ptosis, bulbar syndrome, muscle weakness, and auditory neuropathy are manifested. Without treatment, this leads to death caused by respiratory failure, especially when it starts in childhood. In this paper, we present two siblings with RTD and demonstrate the necessity of early diagnosis and riboflavin substitution treatment. Riboflavin substitution can prevent hearing loss and increase the chance for successful hearing rehabilitation. Comparison with other existing literature is given. We recommend to test every child with captured auditory neuropathy spectrum disorder for a multi-gene NGS/MPS panel and provide substitution treatment before genetic test results, especially when other symptoms are manifested.

• MeSH
• Child MeSH
• Genetic Testing MeSH
• Cochlear Implants MeSH
• Infant MeSH
• Humans MeSH
• Riboflavin Deficiency * diagnosis   genetics   therapy   MeSH
• Hearing Disorders etiology   therapy   MeSH
• Riboflavin therapeutic use   MeSH
• Family MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Case Reports MeSH
• Review MeSH

Hyperhomocysteinemia (HHcy) is considered an independent risk factor of cardiovascular diseases. Among the proposed mechanisms underlying homocysteine toxicity are altered protein expression and induction of oxidative stress. In the present study, we explored protein abundance and parameters related to oxidative stress in heart homogenates of rats exposed to chronic mild HHcy. Using two-dimensional gel electrophoresis followed by MALDI-TOF/TOF mass spectrometry 22 altered proteins (6 upregulated and 14 downregulated) were identified. For eight proteins the altered abundances were validated by Western blot analysis. Identified proteins are primarily involved in energy metabolism (mainly enzymes of glycolysis, pyruvate dehydrogenase complex, citric acid cycle, and ATP synthase), cardiac muscle contraction (alpha-actin and myosin light chains), stress response (heat-shock protein beta1 and alphaB-crystallin) and antioxidant defense (glutathione peroxidase 1). Diminished antioxidant defense was confirmed by decreases in total antioxidant capacity and GSH/GSSG ratio. Consistent with the decline in enzymatic and non-enzymatic antioxidant defense the protein oxidative modification, as determined by tyrosine nitration, was significantly increased. These findings suggest that both, altered protein expression and elevated oxidative stress contribute to cardiovascular injury caused by HHcy. Keywords: Homocysteine, Heart, Protein abundance, Antioxidant capacity, Nitrotyrosines.

• MeSH
• Hyperhomocysteinemia * metabolism   MeSH
• Rats MeSH
• Myocardium * metabolism   MeSH
• Oxidative Stress * MeSH
• Rats, Wistar * MeSH
• Animals MeSH
• Check Tag
• Rats MeSH
• Male MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

Deficit kobalaminu (Cbl, B12) se projevuje v kojeneckém věku neprospíváním, makrocytární anemií, hypotonií, opožděním/regresem vývoje, mikrocefalií a epilepsií. Jednou z příčin deficitu B12 u novorozenců je in utero získaný deficit maternálního původu. Po vzoru jiných zemí EU představujeme průběžné výsledky pilotního projektu novorozeneckého laboratorního screeningu (NLS) deficitu Cbl probíhajícího na spolupracujících pražských pracovištích. Metody: Pro podezření na deficit B12 stačí odchylka alespoň 1 primárního markeru: propionylkarnitin > 3,8 μmol/l, poměr propionylkarnitin/acetylkarnitin > 0,3, methionin < 7 μmol/l, poměr propionylkarnitin/methionin > 0,5 (stanoveno tandemovou hmotnostní spektrometrií). Jako druhostupňové markery využíváme kyselinu methylmalonovou (MMA) > 2,5 μmol/l a celkový homocystein (tHcy) > 12 μmol/l. U pozitivních nálezů provádíme u novorozence i matky test vstřebávání Cbl a stanovujeme celkový B12 (stanoveno elektrochemiluminiscenční imunoanalýzou), holoTC (stanoveno chemiluminiscenční imunoanalýzou), foláty (stanoveno elektrochemiluminiscenční imunoanalýzou), sérovou MMA (stanoveno kapalinovou chromatografií s tandemovou hmotnostní spektrometrií), tHcy (stanoveno vysokoúčinnou kapalinovou chromatografií) a vybrané sirné metabolity. U matek dále stanovujeme markery chronické gastritidy. Výsledky: K 21. 02. 2024 byl deficit B12 vyšetřen v 20 419 krevních kapkách (86,1 % z celkového počtu odebraných vzorků). 863 novorozenců mělo pozitivní alespoň 1 z prvostupňových markerů (2nd tier 4,2 %). Celkově jsme zachytili 6 novorozenců s elevovanými hodnotami MMA, ve 4 případech se jednalo o pravou pozitivitu, 1 případ byl falešně pozitivní, 1 případ byl záchyt kombinované malonové/methylmalonové acidurie. V našich předběžných výsledcích dosahoval neonatální deficit B12 incidenci 1 : 5105 (95% CI 1 : 1994 – 1 : 8735). Závěr: Předběžná data z naší studie prokazují vysokou incidenci neonatálního deficitu B12 ve spolupracujících pražských porodnicích. Výsledky mohou sloužit jako vědecký podklad k rozšíření NLS v České republice. Práce vznikla s podporou grantového projektu AZV NU22-07-00126, RVO-VFN64165 a programu Cooperatio, vědní oblasti „Pediatrie“ a „Metabolické a endokrinní nemoci“.

Cobalamin (Cbl, B12) deficiency manifests in infancy as failure to thrive, macrocytic anemia, hypotonia, developmental delay/regression, microcephaly, and epilepsy. One of the causes of B12 deficiency in newborns is in-utero acquired deficiency caused by maternal deficiency. Following the example of other EU countries, we present interim data from a pilot project of newborn laboratory screening (NLS) for Cbl deficiency, which has been conducted at cooperating Prague hospitals. Methods: At least one abnormal primary marker is required for suspected B12 deficiency: propionylcarnitine > 3.8 μmol/l, propionylcarnitine/acetylcarnitine ratio > 0.3, methionine < 7 μmol/l, propionylcarnitine/methionine ratio > 0.5 (determined by tandem mass spectrometry). Secondary markers include methylmalonic acid (MMA) > 2.5 μmol/l and total homocysteine (tHcy) > 12 μmol/l. In the case of NLS positivity, both the newborn and the mother undergo a Cbl absorption test. We determine total B12 (measured by electrochemiluminescence immunoassay), holoTC (measured by chemiluminescence immunoassay), folates (measured by electrochemiluminescence immunoassay), serum MMA

• MeSH
• Humans MeSH
• Vitamin B 12 Deficiency * diagnosis   etiology   therapy   MeSH
• Infant, Newborn MeSH
• Neonatal Screening methods   MeSH
• Dried Blood Spot Testing MeSH
• Vitamin B 12 blood   therapeutic use   MeSH
• Check Tag
• Humans MeSH
• Infant, Newborn MeSH

Diabetická neuropatie, zejména pak symetrická distální senzitivně­‐motorická polyneuropatie, představuje jednu z nejčastějších pozdních komplikací diabetu. Její prevalence se dle různých statistik pohybuje v obecné populaci diabetiků mezi 10-50 %. S délkou trvání onemocnění a zejména mírou jeho dekompenzace v průběhu času pak její prevalence dále narůstá. Možnosti farmakoterapie jsou v případě tohoto onemocnění do značné míry omezené a její efektivita i tolerance pacientem individuální. Naproti tomu suplementace neurotropními vitaminy, které podporují funkci neuronů a přispívají k jejich ochraně a regeneraci, představuje u těchto pacientů nadějnou možnost prevence i adjuvantní terapie.

Diabetic neuropathy, especially symmetrical distal sensory-motor polyneuropathy, is one of the most common late complications of diabetes. According to various statistics, its prevalence in the general population of diabetics is between 10-50 %, with the duration of the disease and, in particular, the degree of its decompensation over time, its prevalence continues to increase. The possibilities of pharmacotherapy in the case of this disease are largely limited, and its effectiveness and tolerance by the patient are individual. In contrast, supplementation with neurotropic vitamins, which support the function of neurons and contribute to their protection and regeneration, represents a promising possibility for prevention and adjuvant therapy in these patients.

• Keywords
• neurotropní vitaminy,
• MeSH
• Chemotherapy, Adjuvant MeSH
• Diabetic Neuropathies * drug therapy   prevention & control   MeSH
• Diabetes Complications drug therapy   prevention & control   MeSH
• Humans MeSH
• Vitamin B Deficiency diagnosis   etiology   MeSH
• Vitamin B 12 pharmacology   metabolism   therapeutic use   MeSH
• Vitamin B Complex * pharmacology   therapeutic use   MeSH
• Check Tag
• Humans MeSH

Peripheral neuropathy is one of the most common neurological diseases of the peripheral nervous system. According to current statistics, it affects 2.4% of the Czech population, and its prevalence continues to increase with age. The possibilities of its treatment are to a large extent limited, and its effectiveness and the patient's tolerance of pharmacotherapy are individual. Neurotropic vitamins, which support the function of neurons and contribute to their protection and regeneration, represent a promising possibility for prevention and use in adjuvant therapy for patients suffering from this disease. Despite the fact that the diagnosis and treatment of peripheral neuropathy belong to the doctor, the role of the pharmacist can be crucial not only in the area of ensuring effective and safe pharmacotherapy and adherence to it, but also in pre-screening of at-risk persons visiting pharmacies. The primary aim of the article is therefore to familiarize readers with the significance of neurotropic vitamins in the prevention and adjunct therapy of peripheral neuropathy, as well as the role of the pharmacist in the care of patients suffering from this condition.

• MeSH
• Drug Therapy methods   MeSH
• Humans MeSH
• Vitamin B 12 Deficiency complications   MeSH
• Peripheral Nervous System Diseases * etiology   drug therapy   prevention & control   MeSH
• Vitamin B 12 pharmacology   therapeutic use   MeSH
• Vitamin B 6 pharmacology   therapeutic use   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

• MeSH
• Infant * MeSH
• Humans MeSH
• Vitamin B 12 Deficiency * diagnosis   etiology   drug therapy   physiopathology   MeSH
• Neurodevelopmental Disorders etiology   MeSH
• Vitamin B 12 physiology   metabolism   MeSH
• Check Tag
• Infant * MeSH
• Humans MeSH
• Publication type
• Review MeSH