scholarly journals Homocystinuria masquerading as vitamin B12 deficiency

2012 ◽  
Vol 4 (2) ◽  
pp. 326-328
Author(s):  
M Wadhwani ◽  
S Beri ◽  
A Saili ◽  
S Garg

Background: Homocystinuria is a rare metabolic disorder charcterised by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations. Objective: To report a case of homocystinuria masquerading as vitamin B 12 deficiency. Case: We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficiency on the basis of history of delayed milestone, abdominal pain and hyperpigmentation of skin which was diagnosed as homocystinuria. Conclusion: It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.DOI: http://dx.doi.org/10.3126/nepjoph.v4i2.6554 Nepal J Ophthalmol 2012; 4 (8): 326-328

2021 ◽  
pp. 36-38
Author(s):  
Manali Patil ◽  
S. N. Agrawal ◽  
V. V. Saoji

Vitamin B12 deficiency is common in vegetarian population in India and can present with variable Hematological (megaloblastic anemia), Neuropsychiatric, Mucocutaneous (glossitis, angular stomatitis), Skin (pallor, hyperpigmentation) and Hair changes (dry, brittle, thin, lustreless, prematurely grey). Knuckle hyperpigmentation has been described in vitamin B12 deficiency but usually these patients are dermatologically asymptomatic but they have systemic manifestations like megaloblastic anemia, pancytopenia or neurological deficits. The foreground of this study is highlighting the importance of knuckle hyperpigmentation as an early cutaneous sign of vitamin B12 deficiency which points an important clue towards the aetiology of Megaloblastic anemia.


2020 ◽  
Vol 2 (8) ◽  
pp. 01-03
Author(s):  
Rateesh Sareen

Vitamin B12 assay is one of the most frequently ordered tests particularly as a part of regular medical checkups. The deficiency is rampant in vegetarian population. It is of immense importance that laboratories establish their own reference interval (RI) of analyte specially Vitamin B12 as a diagnosis of Vitamin B12 deficiency based on RI of kit insert inadvertently leads to unnecessary treatment or work up. A blind reliance on RI of kit insert should be discouraged as they do not take into account population characteristics and do not truly reflect RI specific to the population under study.


2021 ◽  
Vol 12 (6) ◽  
pp. 113-115
Author(s):  
Somnath Maitra ◽  
Kaushik Hazra ◽  
Biswaroop Mukherjee

Vitamin B12 deficiency presents as megaloblastic anemia with neurological, skin and other clinical manifestations. We present here an interesting case of anemia presenting with generalized weakness and nonspecific symptoms in a female who is a vegetarian. There was acral hyperpigmentation without any other clinical features, Investigations revealed megaloblastic anemia with low vitamin B12 and normal RBC folate levels. The patient improved after blood transfusion and intramuscular vitamin B12 injections and the skin lesions faded away suggesting vitamin B12 deficiency to be the cause of hyperpigmentation, which is an uncommon manifestation. The importance lies in the fact that this cause of reversible hyperpigmentation should be thought of by clinicians to start prompt treatment.


2014 ◽  
Vol 04 (01) ◽  
pp. 104-105
Author(s):  
Prassanna Baby ◽  

Abstract:Vitamin B12 is a crystalline compound essential to a number of micro-organisms and animals, including humans. So far as is known it is not present in higher plants. Pure vegetarian food is nearly free from vit. B12. It is a nutrient that needs attention in vegan diet. Vegetarians are at risk for vitamin B(12) (B12) deficiency due to suboptimal intake. Dietary deficiency of vitamin B12 due to vegetarianism is increasing and causes hyperhomocysteinemia Areas for research include intermittent vitamin B12 supplement dosing and better measurements of the bioavailability of B12 in fermented vegetarian foods and algae. The goal of the present literature review was to create an awareness among the vegans to identify the vegetarian sources of Vitamin B12 and to incorporate them into their daily diet.


Author(s):  
Siddharth Sharma ◽  
Kunal Das ◽  
Mansi Kala ◽  
Sushil Kumar Shukla ◽  
Ruchira Nautiyal ◽  
...  

Introduction: Hemolysis, Elevated liver enzyme, low platelet (HELLP) syndrome is often noted as a complication of preeclampsia but can occur without this association as well. Severe form often requires termination of pregnancy. Vitamin B12 deficiency is common in vegetarian population and can mimic HELLP syndrome. Case Summary: We present an interesting case which was initially thought to be HELLP syndrome based on the clinical presentation and patient was planned for induction of labour,  but later on it was found out to be a case of Vitamin B12 deficiency on the basis of Lab findings. Patient responded well to the B12 supplementation and unjustified termination of pregnancy was avoided. Conclusion: This case illustrates an interesting clinical misdiagnosis of HELLP syndrome in an overt megaloblastic anemia. An elaborated workup with clinical suspicion should be made for megaloblastic anemia in such condition. Keywords: HELLP syndrome, Megaloblastic Anemia, Vitamin B12 deficiency, Pregnancy


2017 ◽  
Vol 4 (4) ◽  
pp. 1150 ◽  
Author(s):  
Vivek Kumar Verma ◽  
Ranjit Kumar Nim ◽  
P. S. Singh ◽  
Manoj Kumar ◽  
Geeta Singh ◽  
...  

Background: Diabetes is a group of metabolic disorder that share the phenotype of hyperglycemia. Over the period of time the metabolic dysregulation associated with diabetes mellitus causes secondary pathophysiological changes in multiple organs like heart, blood vessels, eyes, kidney and nerves resulting in various complications. However, a common potential interaction of metformin with vitamin B-12 is well documented but is poorly studied by the physicians who prescribe metformin to their diabetic patients. Since vitamin B-12 deficiency is common among vegan population as compared to population consuming food of animal origin (meat, fish and dairy products). But in this article, it has been studied that metformin cause vitamin B-12 deficiency even in non-vegetarian population. The aim of this study was to asses’ vitamin B12 deficiency among vegetarian and non-vegetarian diabetic population receiving prolonged Metformin based oral hypoglycaemic agents therapy. It was a cross sectional study done in Department of Medicine, UPUMS, Saifai, Etawah, Uttar Pradesh, India.Methods: Study done among patients of type 2 diabetes mellitus of age group 30-60 years on prolonged metformin based OHA therapy and having peripheral neuropathy were included in study. Data was analysed on SPSS Version 22.0 and p value obtained.Results: Statistical analysis of 93 patients included in study showed that vitamin B12 deficiency is common among the vegetarian (56.52%) and non-vegetarian (35.71%) population but the difference is not statistically significant (p value=0.29) which is more in favour of metformin associated vitamin B12 deficiency in non-vegetarian population.Conclusions: Vitamin B12 deficiency is common in diabetes patients on metformin based OHA therapy hence we recommend routine screening for Vitamin B12 deficiency in such diabetes patients. 


2021 ◽  
Vol 4 (Special2) ◽  
pp. 415-418
Author(s):  
Neha Agarwal ◽  
Neha Khatri ◽  
Preeti Singh

Background: Folate and vitamin B 12 deficiency can lead to pancytopenia in pregnancy. Some cases of pancytopenia due to COVID-19 infection have also been reported. The two cases that we present are related to the coincidence of pregnancy and deficiency of folic acid and vitamin B12 with COVID-19 infection. Case presentation: A 26-year- woman G3P1L1A1 and 21-year-woman G2P1L1 presented with pancytopenia and mild COVID-19 infection. The antenatal period was uneventful, and both cases also had folate and vitamin B12 deficiency. They received blood products, folic acid, and vitamin B12 supplementation. COVID- 19 infection was managed well with analgesic and vital monitoring. Postpartum hemorrhage occurred in the second case, which was well managed with uterotonics. All laboratory parameters came out to be normal after three months of supplementation of folic acid and vitamin B12. Conclusion: Pancytopenia in pregnancy due to folate and vitamin B12 deficiency and COVID- 19 infection can be easily managed with timely intensive targeted therapy, but we should be extra vigilant while handling such complicated cases, keeping in mind all possible differential diagnoses for pancytopenia.


2019 ◽  
Vol 6 (5) ◽  
pp. 1667
Author(s):  
Palak Bhuta ◽  
Amit Shah ◽  
Arti Muley

Background: Hypothyroidism is the most common of thyroid disorders in India. Anemia and hypothyroidism often occur simultaneously. Only few studies have assessed the role of vitamin B12 deficiency in this anemia. So, we planned this study to assess prevalence of anemia in hypothyroidism and to see if there is any association between vitamin B12 deficiency and anemia in these patients.Methods: It was an observational study. All hypothyroid patients attending the medicine OPD or admitted to medicine wards were enrolled for the study. Total 60 patients were included. Data was analyzed to assess the burden of anemia and B12 deficiency in hypothyroid and to find out any correlation between TSH level, anemia and vitamin B12 deficiency.).Results: About one third of hypothyroid had decreased vitamin B 12 levels. TSH level showed significant positive correlation with hemoglobin value. 28% of the hypothyroid patients had vitamin b12 deficiency, but TSH levels itself did not correlate with vitamin B12 level. However, it was seen that those who had combined thyroid and B12 deficiency had significantly higher chances of developing generalized swelling and breathlessness.Conclusions: Although there is no correlation between TSH level and B12 deficiency, it may be helpful to determine B12 level in hypothyroid patients who present with anemia, generalized swelling and/or breathlessness as B12 supplementation may give better symptomatic relief in them as compared to treating with thyroxine alone. More elaborative studies with larger sample size are required to explore this rather unattended relation of anemia in hypothyroidism with B12 deficiency.


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