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The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.
Journal article

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.

  • Huemer M Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Baumgartner MR Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • 2019-02-15
Published in:
  • Journal of inherited metabolic disease. - 2019
Imerslund-Gräsbeck
cobalamin
folate
intrinsic factor
transcobalamin
vitamin B12
Folic Acid
Folic Acid Deficiency
Homocystinuria
Humans
Infant, Newborn
Metabolic Networks and Pathways
Methylenetetrahydrofolate Dehydrogenase (NADP)
Methylenetetrahydrofolate Reductase (NADPH2)
Muscle Spasticity
Psychotic Disorders
Vitamin B 12
Vitamin B 12 Deficiency
English This review gives an overview of clinical characteristics, treatment and outcome of nutritional and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl absorption and intracellular trafficking, as well as methylenetetrahydrofolate dehydrogenase (MTHFD1) and methylene tetrahydrofolate reductase (MTHFR) deficiencies, which impair Cbl-dependent remethylation. Acquired and inborn Cbl-related disorders and MTHFR deficiency cause multisystem, often severe disease. Failure to thrive, neurocognitive or psychiatric symptoms, eye disease, bone marrow alterations, microangiopathy and thromboembolic events are characteristic. The recently identified MTHFD1 defect additionally presents with severe immune deficiency. Deficient Cbl-dependent enzymes cause reduced methylation capacity and metabolite toxicity. Further net-effects of perturbed Cbl function or reduced Cbl supply causing oxidative stress, altered cytokine regulation or immune functions are discussed.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://folia.unifr.ch/global/documents/133286
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