This test counts the number of cells in the blood and will show a low number of red blood cells if anemia is present. [medicineonline.com]

The patients with this GIF mutation presented with megaloblastic anemia similarly to the patient discussed. [epostersonline.com]

Clinical description Patients usually present in infancy or early childhood with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, hepatomegaly and coma. [orpha.net]

Bone pain was present in 31% of patients. [omicsonline.org]

Case presentation We report the case of a 25-month-old Italian girl who presented with failure to-thrive and megaloblastic anemia. [ncbi.nlm.nih.gov]

• Fatigue

  Elderly individuals require vitamin B12 supplements in order to avoid pernicious anemia symptoms like memory loss, fatigue, and mood disorders. [b12patch.com]

  The symptoms of pernicious anemia may include weakness, fatigue, an upset stomach, an abnormally rapid heartbeat (tachycardia), and/or chest pains. [rarediseases.org]

  Common symptoms include: Pale skin Irritability Poor appetite Smooth and painful tongue Stomach problems Numbness/tingling in hands and feet Difficulty walking Muscle weakness Fatigue Fast/irregular heartbeat Trouble breathing and Lightheadedness or dizziness [nicklauschildrens.org]

  Initial symptoms of vitamin B12 deficiency can include: Dizziness Paleness Shortness of breath Fatigue Anaemia Hearing difficulties. [southerncross.co.nz]

• Malnutrition

  Vitamin B12 deficiency confirmed by laboratory tests may occur in cases of − undernourishment and malnutrition for years (e.g., caused by strict vegetarian diet), − malabsorption (insufficient vitamin B12 is absorbed by the intestines) due to − insufficient [hevert.com]

  […] but affects also demented people who neglect their nutrition, patients with gastric cancer, persons who have had bariatric surgery, gastrectomy (sometimes appearing many years after the procedure), hyperemesis gravidarum, anorexia nervosa, and other malnutrition [neuropathology-web.org]

  The anemia associated with rickets might be due to a combined deficiency or part of generalized malnutrition or due to an occult role of the vitamin in the metamorphosis of the blood cells. [omicsonline.org]

  B12 deficiency leads to pathological changes in all rapidly dividing cells, such as hematopoietic stem cells and cells of the gastroenteric mucosa. 6 In our patient, this was evident with pancytopenia and malnutrition. [nature.com]

  Diagnosing IGS is a time-consuming and often inconclusive procedure based primarily on excluding other causes of Cbl deficiency, which are many and vary with age (e.g., malnutrition, lack of Intrinsic Factor, consumption of Cbl by parasitic worms or bacterial [ncbi.nlm.nih.gov]

• Swelling

  Pain, swelling, and irritation of the mouth or other mucous membranes, such as the vagina or the urethra. Severe deficiency can cause the tongue to turn red or swell. Some people develop sores under the tongue or on their lips. [medicalnewstoday.com]

  Symptoms of a B12 deficiency are headache, skin rash, and swelling. However, if left untreated the symptoms can become much more severe such as tingling/numbness in the fingers and toes, and muscle weakness. [healthresearchfunding.org]

  Hypersensitivity (anaphylaxis) is exceptionally rare and may include swelling, itching, and shock. Very high doses of vitamin B12 may sometimes cause acne. [southerncross.co.nz]

  Neuroaxonal swellings are seen in the gracile and cuneate nuclei. Similar changes can be produced in rats and monkeys with experimental vitamin E deprivation. [neuropathology-web.org]

  The large myelinated fibers are predominantly affected with the earliest change been swelling of the myelin sheath. [ispub.com]

• Recurrent Infection

  The absence of well-known causes of failure-to-thrive, such as recurrent infections or gastrointestinal complaints, suggests that the metabolic disturbances caused by an isolated cobalamin decificiency as seen in IGS can elicit a failure to thrive [8,9 [ncbi.nlm.nih.gov]

• Respiratory Distress

  Clinical description Patients usually present in infancy or early childhood with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, hepatomegaly and coma. [orpha.net]

  The infants presented with a clinical picture that included hepatitis, hemolytic anemia, rickets and respiratory distress, a combination that resembled a syndrome first described in malnourished infants known as Von Jaksch and Luzet Syndrome. [omicsonline.org]

• Vomiting

  Standard of Care Treatment Effect Improves psychomotor development/IQ, neurological & systemic manifestations The absence or afunctional status of Intrinsic Factor causes symptoms usually between 1-5 years of age: megaloblastic anemia, failure to thrive, vomiting [treatable-id.org]

  Chronic diarrhea, acid reflux, cyclical vomiting, stomach ulcers, and gastrointestinal disorders all correlate heavily with pernicious anemia. You’re over 65. As you age, your body slows down, producing fewer bodily fluids. [b12patch.com]

  Author: Volodymyr Shponka, MD; Maria Proytcheva, MD Category: Red Cell: Other Disorders > Megaloblastic Anemia > B12 / folate Published Date: 07/11/2017 An 8-month-old female, exclusively breastfed, presented with pallor and a two-month history of vomiting [imagebank.hematology.org]

  Clinical description Patients usually present in infancy or early childhood with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, hepatomegaly and coma. [orpha.net]

  Nausea and vomiting, constipation, and dark colored stools [studystack.com]

• Failure to Thrive

  Failure to-thrive is also associated with IGS [8,9]. [ncbi.nlm.nih.gov]

  […] to thrive, vomiting, diarrhea and developmental delay often with myelopathy or peripheral neuropathy. [treatable-id.org]

  The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal [medlineplus.gov]

  It manifests with failure to thrive and symptoms of anemia (e.g. asthenia, weakness, headache, infections). If untreated, neurological damage may occur such as peripheral neuropathy, subacute combined degeneration of the spinal cord and/or ataxia. [orpha.net]

• Nausea

  Nausea and vomiting, constipation, and dark colored stools [studystack.com]

  They can include: Diarrhea or constipation Nausea Vomiting Fatigue, lack of energy, or lightheadedness when standing up or with exertion Loss of appetite Pale skin (mild jaundice) Shortness of breath, mostly during exercise Heartburn Swollen, red tongue [medlineplus.gov]

  Other uncommon side effects include skin rash, hot flushes, nausea, dizziness and cardiac arrhythmias. Interactions It is important to note that vitamin B12 supplements can be destroyed if taken within an hour of large amounts of vitamin C. [southerncross.co.nz]

  Digestive pain, such as swelling, vomiting, nausea, diarrhea, and constipation. Some people develop ulcers in their bowels that cause bloody diarrhea. [medicalnewstoday.com]

• Abdominal Pain

  Affected individuals may also have gastrointestinal problems, such as a profound lack of appetite (anorexia), abdominal pain, indigestion, belching, and/or constipation and diarrhea. Weight loss is also common. [rarediseases.org]

  […] distension and abdominal pain, where the classical malabsorption features are not dominant. [ 14 ]. [omicsonline.org]

• Heart Failure

  This stress on the heart can cause heart murmurs (an extra or unusual sound heard during the heartbeat), fast or irregular heartbeats, an enlarged heart, or even heart failure. [emedicinehealth.com]

  A short supply of red blood cells requires the person's heart to work harder in order to circulate oxygen throughout their body, leading to the potential for chest pain and arrhythmias, heart enlargement, heart murmur, or potential heart failure. [disabled-world.com]

  In anemia, the heart is placed under stress since it has to work harder to deliver enough oxygen to body tissues. This can result in heart murmurs, fast heartbeats, arrhythmias, an enlarged heart (cardiomegaly), or even heart failure. [medicinenet.com]

  A patient who is acutely decompensated with heart failure from anemia should be transfused with a single unit of packed red cells under aggressive diuretic coverage. [cancertherapyadvisor.com]

  Severe anemia can cause congestive heart failure or precipitate coronary insufficiency. [emedicine.medscape.com]

• Difficulty Concentrating

  smooth and tender tongue weak muscles (Vitamin B12 specific) Lightheadedness upon standing or exertion Difficulty concentrating Shortness of breath (primarily during exercise) Swollen, red tongue Bleeding gums It is important to understand that some [danafarberbostonchildrens.org]

Although their clinical settings differ considerably, no hematologic finding can distinguish between the 2 conditions; specific testing is necessary (see Workup). [emedicine.medscape.com]

• Polyps

  Conditions that may lead to anemia include Heavy periods Pregnancy Ulcers Colon polyps or colon cancer Inherited disorders A diet that does not have enough iron, folic acid or vitamin B12 Blood disorders such as sickle cell anemia and thalassemia, or [icdlist.com]

  People with pernicious anemia may have gastric polyps. They are also more likely to develop gastric cancer and gastric carcinoid tumors. People with pernicious anemia are more likely to have fractures of the back, upper leg, and upper forearm. [medlineplus.gov]

  Possible Complications People with pernicious anemia may have gastric polyps. They are also more likely to develop gastric cancer and gastric carcinoid tumors. [mountsinai.org]

  Gastric polyps may develop, which leads to a greater chance of developing gastric cancer. Vitamin B12 deficiency will affect the appearance of epithelial cells on the cervix, and an untreated woman may get a false positive result on a Pap test. [medbroadcast.com]

Diagnosis and Treatment. Berlin: Springer Verlag; 1995:147–160. Google Scholar Batshaw ML, Brusilow, Waber L et al. Treatment in inborn errors of urea synthesis. New Engl J Med 1982; 306:1387. [link.springer.com]

What are the side effects of the treatments? Injections can cause soreness at the site of the needle stick. What happens after treatment for the disease? A person with congenital lack of intrinsic factor needs lifelong treatment. [allhealth.com.au]

For teenagers the adult treatment can be followed. The symptoms are of decisive importance during treatment. [stichtingb12tekort.nl]

Gene GIF (AR) Diagnostic Test Plasma Vitamin B12, Folate Neurological Ataxia, dystonia Non-Neurological Megaloblastic anemia, pancytopenia Treatment HydroxyCobalamin Level of Evidence 4 Clinical Practice Standard of Care Treatment Effect Improves psychomotor [treatable-id.org]

Prognosis The prognosis varies with the complement involved, with cblA patients having the most favorable prognosis (most patients well at ages up to 30 years) and cblB patients less favorable. cblD v2 appears similar to cblA, although the number of patients [orpha.net]

Outlook (Prognosis) Most people often do well with treatment. It is important to start treatment early. Nerve damage can be permanent if treatment does not start within 6 months of symptoms. [mountsinai.org]

Today, the prognosis is excellent. Replacement therapy with adequate amounts of vitamin B12 will correct the deficiency and allow a person to lead a normal life. [medbroadcast.com]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Etiology Patients have bi-allelic mutations in the GIF gene on chromosome 11 encoding the gastric Intrinsic Factor (IF), a protein necessary for the absorption of vitamin B12. [orpha.net]

Children who develop cobalamin deficiency usually have a hereditary disorder, and the etiology of their cobalamin deficiency is different from the etiology observed in classic pernicious anemia. [emedicine.medscape.com]

Examinations performed to determine the etiology of the deficiency showed a vitamin B-12 mal-absorption in the Schilling test which was corrected by adding intrinsic factor (IF) as well as normal gastric mucosa and acid secretion, although IF in gastric [link.springer.com]

Summary Epidemiology The incidence and prevalence of IFD are unknown. Fewer than 100 cases have been reported in the literature and fewer than 50 cases have been confirmed molecularly. [orpha.net]

Epidemiology The adult form of pernicious anemia is most prevalent among individuals of either Celtic (ie, English, Irish, Scottish) or Scandinavian origin. In these groups, 10-20 cases per 100,000 people occur per year. [emedicine.medscape.com]

[citation needed] Epidemiology[edit] This is a rare disease with prevalence about 1 in 200,000[1] to 1 in 600,000.[12] Studies showed that mutations in CUBN or AMN clustered particularly in the Scandinavian countries and the Eastern Mediterranean regions [en.wikipedia.org]

[…] patients with vitamin B12 deficiency has been previously described, 3-7 and it is characterized by a sensation of electrical lightning discharge, with paresthesia experienced through the spine, legs and sometimes arms, caused by neck flexion. 8 The pathophysiology [scielo.br]

Pathophysiology Etio-pathophysiologic classification of vitamin B12 deficiency Nutritional vitamin B12 deficiency (insufficient intake of vitamin B12-rich animal source foods) Vegetarians, near-vegetarians, breast-fed infants of mothers with pernicious [cancertherapyadvisor.com]

To understand the basic pathophysiology of Imerslund–Gräsbeck syndrome, it is imperative to understand the absorption of vitamin B12. [en.wikipedia.org]

Pathophysiology Of Neurological Manifestations Cyanocobalamin mediates two important enzymatic reactions in humans. [ispub.com]

Pathophysiology Classic pernicious anemia is caused by the failure of gastric parietal cells to produce sufficient IF (a gastric protein secreted by parietal cells) to permit the absorption of adequate quantities of dietary vitamin B-12. [emedicine.medscape.com]

/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% We Could [medicbind.com]

As a matter of fact, studies show that vitamin B12 prevents birth defects when it is taken as part of a prenatal care regimen. [vitamininjections.net]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Dairy products, including yogurt, are an excellent source of vitamin B12 and daily intake can help to meet the recommendation of 3.0 µg in order to prevent vitamin B12 deficiency, which is associated with serious health problems. [yogurtinnutrition.com]