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]

• 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]

• Cough

  Granulomatosis with polyangiitis (Wegener) Typically have upper airway symptoms, such as a history of sinusitis or chronic cough. [online.epocrates.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]

• Dyspepsia

  Patients with evidence of vitamin B 12 deficiency and chronic gastrointestinal symptoms such as dyspepsia, recurrent peptic ulcer disease, or diarrhea may warrant evaluation for such entities as Whipple's disease (a rare bacterial infection that impairs [aafp.org]

  Prevalence of endoscopic and histological findings in subjects with and without dyspepsia. Br Med J 1991;302:749-52. [ PubMed abstract（英語サイト） ] Krasinski SD, Russell R, Samloff IM, Jacob RA, Dalal GE, McGandy RB, et al. [ejim.ncgg.go.jp]

• 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]

• Fracture

  Very little supportive evidence exists for a direct role of folate on either BMD or fracture risk; however, the data available are quite limited. [omicsonline.org]

  People with pernicious anemia are more likely to have fractures of the back, upper leg, and upper forearm. Brain and nervous system problems may continue or be permanent if treatment is delayed. [medlineplus.gov]

  Homocysteine and vitamin B12 status relate to bone turnover markers, broadband ultrasound attenuation, and fractures in healthy elderly people. J Bone Mineral Res. 2005;20:921–929. doi: 10.1359/JBMR.050202. [ncbi.nlm.nih.gov]

  “Effect of folate and mecobalamin on hip fractures in patients with stroke: a randomized controlled trial”.. vol. 293. 2005. pp. 1082-1088. [cancertherapyadvisor.com]

• Myelopathy

  Lhermitte's sign in alcoholic myelopathy without portosystemic shunting: MRI evaluation. Intern Med. 2005;44(2): 153-4. [ Links ] 13. Klimo P Jr, Blumenthal DT, Couldwell WT. [scielo.br]

  The myelopathy of vitamin B-12 deficiency is virtually indistinguishable from the vacuolar myelopathy of AIDS. [ispub.com]

  […] 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, diarrhea and developmental delay often with myelopathy [treatable-id.org]

  (spinal cord) G95.9 ICD-10-CM Diagnosis Code G95.9 Disease of spinal cord, unspecified 2016 2017 2018 2019 Billable/Specific Code Applicable To Myelopathy NOS in (due to) pernicious anemia D51.0 Neuropathy, neuropathic G62.9 ICD-10-CM Diagnosis Code [icd10data.com]

• Aura

  “B12 injections and infusions for healthy people create an aura of fabricated need. It’s like having a plaster put on your knee and getting a cuddle when you fall over.” [theguardian.com]

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

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

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]