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Summary
VITAMIN B12 DEFICIENCY DD
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
 At present, no ÔÇÿgold standardÔÇÖ test exists for the diagnosis of vitamin B12 defi ciency and as a consequence, the diagnosis requires consideration of both the clinical state of the patient and the results of investigations [Shipton MJ, Thachil J 2015]

Low vitamin B12 intake
- Vegetarianism
- Chronic alcoholism
- Older people
Autoimmune
- Pernicious anaemia
- Sj+ÂgrenÔÇÖs syndrome
Food-bound cobalamin malabsorption
- Atrophic gastritis
- Chronic gastritis
- Helicobacter pylori-associated gastritis
- Bacterial overgrowth
Surgery
- Post-gastrectomy
- Ileal resection
Malabsorption
- Small intestinal bacterial overgrowth
- Chronic pancreatic exocrine insufficiency
- CrohnÔÇÖs disease
- Coeliac disease
- Achlorhydria
Obstetric/gynaecological
- Oral contraceptive
- Hormone replacement therapy
- Pregnancy
Genetic
- Transcobalamin II deficiency
Drugs
- Metformin
- Proton pump inhibitors
- Histamine H2-receptor antagonists
symptoms
abnormal movement
anemia
depression
megaloblastic anemia
myelopathy
neutropenia (decreased neutrophils)
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
pancytopenia
peripheral neuropathy
psychosis
thrombopenia, thrombocytopenia
laboratory finding
Methylmalonic acid mmol/mol Creaurine
Methylmalonic acid mmol/lplasma
Homocysteine +€mol/lplasma
Vitamin B12 pg/mlserum
Literature
Kirschenbaum D,et al.Distinctive cerebral neuropathology in an adult case of SANDO syndromeNeuropathol Appl Neurobiol002017
Weiss MD,Saneto RPSensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutationsMuscle Nerve416882-8852010
Van Goethem G,et al.Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegiaNeuromuscul Disord132133-1422003
Hanisch F,et al.SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletionsJ Neurol Neurosurg Psychiatry. 2015 Jun86(6):630-4866630-6342015
Cohen BH,et al.POLG-Related DisordersSource GeneReviews-« Internet002014
Van Goethem G,et al.POLG mutations in neurodegenerative disorders with ataxia but no muscle involvementNeurology6371251-12572004