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Disorder of vitamin B12

MedGen UID:
695921
•Concept ID:
C1272348
•
Disease or Syndrome
Synonym: Disorder of vitamin B>12<
SNOMED CT: Disorder of vitamin B12 (386067009); Disorder of vitamin B>12< (386067009)

Professional guidelines

PubMed

AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Peripheral Neuropathy: Evaluation and Differential Diagnosis.
Castelli G, Desai KM, Cantone RE
Am Fam Physician 2020 Dec 15;102(12):732-739. PMID: 33320513
Vitamin B12 Deficiency: Recognition and Management.
Langan RC, Goodbred AJ
Am Fam Physician 2017 Sep 15;96(6):384-389. PMID: 28925645

Recent clinical studies

Etiology

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME
Ophthalmic Genet 2016 Dec;37(4):404-414. Epub 2016 Mar 15 doi: 10.3109/13816810.2015.1121500. PMID: 26979128
Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.
Paul EA, Guttenberg M, Kaplan P, Watkins D, Rosenblatt DS, Treat JR, Kaplan BS
Pediatr Nephrol 2013 Jul;28(7):1135-9. Epub 2013 Mar 19 doi: 10.1007/s00467-013-2443-6. PMID: 23503767
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS
Hum Mutat 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104. PMID: 15523652
Multiple sclerosis and vitamin B12 metabolism.
Reynolds EH
J Neuroimmunol 1992 Oct;40(2-3):225-30. doi: 10.1016/0165-5728(92)90137-a. PMID: 1430153
Evidence of brain methyltransferase inhibition and early brain involvement in HIV-positive patients.
Keating JN, Trimble KC, Mulcahy F, Scott JM, Weir DG
Lancet 1991 Apr 20;337(8747):935-9. doi: 10.1016/0140-6736(91)91570-k. PMID: 1678030

Diagnosis

A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.
Baker KM, Parikh NS, Salsbery KT, Shaw GR, Steiner RD, Oelstrom MJ, Manalang MA
J Pediatr Hematol Oncol 2022 Mar 1;44(2):e444-e446. doi: 10.1097/MPH.0000000000002213. PMID: 34054045
Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.
Topaloglu R, İnözü M, Gülhan B, Gürbüz B, Talim B, Coşkun T
Nephron 2019;142(3):258-263. Epub 2019 May 28 doi: 10.1159/000497822. PMID: 31137025
The remarkable S. Harvey Mudd - A reminiscence.
Levy HL
Mol Genet Metab 2016 Jul;118(3):143-144. Epub 2016 Apr 27 doi: 10.1016/j.ymgme.2016.04.013. PMID: 27177696
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME
Ophthalmic Genet 2016 Dec;37(4):404-414. Epub 2016 Mar 15 doi: 10.3109/13816810.2015.1121500. PMID: 26979128
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS
Hum Mutat 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104. PMID: 15523652

Therapy

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.
Öztürk Z, Arhan E, Aydin K, Hirfanoğlu T, Tümer L, Okur I, Serdaroğlu A, Akbaş Y, Karaoğlu B
Genet Couns 2016;27(3):399-403. PMID: 30204970
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
Takeichi T, Hsu CK, Yang HS, Chen HY, Wong TW, Tsai WL, Chao SC, Lee JY, Akiyama M, Simpson MA, McGrath JA
Br J Dermatol 2015 Apr;172(4):1111-5. Epub 2015 Feb 27 doi: 10.1111/bjd.13413. PMID: 25234635
Cobalamin C deficiency in an adolescent with altered mental status and anorexia.
Rahmandar MH, Bawcom A, Romano ME, Hamid R
Pediatrics 2014 Dec;134(6):e1709-14. Epub 2014 Nov 3 doi: 10.1542/peds.2013-2711. PMID: 25367534Free PMC Article
Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.
Paul EA, Guttenberg M, Kaplan P, Watkins D, Rosenblatt DS, Treat JR, Kaplan BS
Pediatr Nephrol 2013 Jul;28(7):1135-9. Epub 2013 Mar 19 doi: 10.1007/s00467-013-2443-6. PMID: 23503767
Neuropsychiatric illness in a patient with cobalamin G disease, an inherited disorder of vitamin B12 metabolism.
Hill KP, Lukonis CJ, Korson MS, Weinstein C, Thall M, Schwartz JT
Harv Rev Psychiatry 2004 Mar-Apr;12(2):116-22. doi: 10.1080/10673220490447227. PMID: 15204806

Prognosis

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
Adrovic A, Canpolat N, Caliskan S, Sever L, Kıykım E, Agbas A, Baumgartner MR
Pediatr Int 2016 Aug;58(8):763-5. Epub 2016 Jun 21 doi: 10.1111/ped.12953. PMID: 27324188
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME
Ophthalmic Genet 2016 Dec;37(4):404-414. Epub 2016 Mar 15 doi: 10.3109/13816810.2015.1121500. PMID: 26979128
Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.
Paul EA, Guttenberg M, Kaplan P, Watkins D, Rosenblatt DS, Treat JR, Kaplan BS
Pediatr Nephrol 2013 Jul;28(7):1135-9. Epub 2013 Mar 19 doi: 10.1007/s00467-013-2443-6. PMID: 23503767

Clinical prediction guides

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
Adrovic A, Canpolat N, Caliskan S, Sever L, Kıykım E, Agbas A, Baumgartner MR
Pediatr Int 2016 Aug;58(8):763-5. Epub 2016 Jun 21 doi: 10.1111/ped.12953. PMID: 27324188
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME
Ophthalmic Genet 2016 Dec;37(4):404-414. Epub 2016 Mar 15 doi: 10.3109/13816810.2015.1121500. PMID: 26979128
Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.
Paul EA, Guttenberg M, Kaplan P, Watkins D, Rosenblatt DS, Treat JR, Kaplan BS
Pediatr Nephrol 2013 Jul;28(7):1135-9. Epub 2013 Mar 19 doi: 10.1007/s00467-013-2443-6. PMID: 23503767

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