Imerslund-Grasbeck syndrome

Jump to navigation Jump to search

WikiDoc Resources for Imerslund-Grasbeck syndrome

Articles

Most recent articles on Imerslund-Grasbeck syndrome

Most cited articles on Imerslund-Grasbeck syndrome

Review articles on Imerslund-Grasbeck syndrome

Articles on Imerslund-Grasbeck syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Imerslund-Grasbeck syndrome

Images of Imerslund-Grasbeck syndrome

Photos of Imerslund-Grasbeck syndrome

Podcasts & MP3s on Imerslund-Grasbeck syndrome

Videos on Imerslund-Grasbeck syndrome

Evidence Based Medicine

Cochrane Collaboration on Imerslund-Grasbeck syndrome

Bandolier on Imerslund-Grasbeck syndrome

TRIP on Imerslund-Grasbeck syndrome

Clinical Trials

Ongoing Trials on Imerslund-Grasbeck syndrome at Clinical Trials.gov

Trial results on Imerslund-Grasbeck syndrome

Clinical Trials on Imerslund-Grasbeck syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Imerslund-Grasbeck syndrome

NICE Guidance on Imerslund-Grasbeck syndrome

NHS PRODIGY Guidance

FDA on Imerslund-Grasbeck syndrome

CDC on Imerslund-Grasbeck syndrome

Books

Books on Imerslund-Grasbeck syndrome

News

Imerslund-Grasbeck syndrome in the news

Be alerted to news on Imerslund-Grasbeck syndrome

News trends on Imerslund-Grasbeck syndrome

Commentary

Blogs on Imerslund-Grasbeck syndrome

Definitions

Definitions of Imerslund-Grasbeck syndrome

Patient Resources / Community

Patient resources on Imerslund-Grasbeck syndrome

Discussion groups on Imerslund-Grasbeck syndrome

Patient Handouts on Imerslund-Grasbeck syndrome

Directions to Hospitals Treating Imerslund-Grasbeck syndrome

Risk calculators and risk factors for Imerslund-Grasbeck syndrome

Healthcare Provider Resources

Symptoms of Imerslund-Grasbeck syndrome

Causes & Risk Factors for Imerslund-Grasbeck syndrome

Diagnostic studies for Imerslund-Grasbeck syndrome

Treatment of Imerslund-Grasbeck syndrome

Continuing Medical Education (CME)

CME Programs on Imerslund-Grasbeck syndrome

International

Imerslund-Grasbeck syndrome en Espanol

Imerslund-Grasbeck syndrome en Francais

Business

Imerslund-Grasbeck syndrome in the Marketplace

Patents on Imerslund-Grasbeck syndrome

Experimental / Informatics

List of terms related to Imerslund-Grasbeck syndrome

[[CMG}}; Associate Editor-in-Chief Aditya Govindavarjhulla, M.B.B.S. [1]; Assistant Editor-in-Chief: Robert Shafton

Please Join in Editing This Page and Apply to be an Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

Imerslund-Grasbeck syndrome or Imerslund-Najman-Grasbeck syndrome or Imerslund-Grasbeck disease (IGS or INGS) is an autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the receptor located in the terminal ileum.


Signs and symptoms

Defined as those seen in any macrocytic, megaloblastic anemia:

  • Anemia: causing fatigue, conjuctival palor, pale complexion, and in some cases, a mild icterus (yellowing of the eye).
  • Glossitis("shiny tongue"): shiny, glossy tongue.
  • Cheilosis(stomatitis): Inflammation of the edges of the lips and the oral mucosa.
  • Tabes dorsalis ("subacute combined degeneration of the spinal cord"): This involves the posterior section of the spinal cord and therefore involves proprioception (sense of position), touch, sense of vibration and in severe cases the lateral corticospinal tract, causing spastic paralysis of the limbs.
  • Peripheral neuropathy: tingling sensation in the arms and legs.
  • Pancytopenia: decreased number of blood cells, due to decreased bone marrow production.
  • Methylmalonyl CoA-emia: defined as blood having and unusually high concentration of methylmalonyl CoA.
  • Peripheral findings such as hypersegmented neutrophils and large RBCs on high field view of the blood smears.
  • Laboratory findings indicating increased MCV (Mean Corpuscular Volume), decreased Hgb/Hct (indicating anemia), and decreased value of vitamin B12 in the blood.
  • Proteinuria: protein found in the urine detected by analysis or by dipstick.
  • Reversal of all symptoms except neurological symptoms, by IV injection of vitamin B12.
  • Schilling test indicating no radioactive vitamin B12 in the urine. (This test has dropped out of favor and should not be tried in patients with any form of renal failure).

Genetics

The disease is autosomal recessive, and can therefore skip generations. Mutations in either amnionless (AMN) or cubilin can be the culprit. The suspected chromosome is 14.[1] Due to its autosomal recessive pattern of inheritance, affected individuals (persons possessing a homozygous recessive genotype) need to undergo genetic counselling to identify risk of family members who might be heterozygous genetic carriers.



Template:SIB Template:WH Template:WS