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Disorders of Intracellular Cobalamin Metabolism

MedGen UID:
431598
Concept ID:
CN043592
Disease or Syndrome
Genes (locations): ABCD4 (14q24.3); HCFC1 (Xq28); THAP11 (16q22.1); ZNF143 (11p15.4)
Related genes: LMBRD1, MMADHC, MMACHC, PRDX1, MTRR, MTR

Disease characteristics

Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord. [from GeneReviews]
Authors:
Jennifer L Sloan  |  Nuria Carrillo  |  David Adams, et. al.   view full author information

Professional guidelines

PubMed

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ
J Inherit Metab Dis 2015 Nov;38(6):1007-19. Epub 2015 Mar 12 doi: 10.1007/s10545-015-9830-z. PMID: 25762406Free PMC Article

Recent clinical studies

Etiology

Bhat V, Narayanan DL, Shukla A
BMJ Case Rep 2021 Jun 3;14(6) doi: 10.1136/bcr-2020-239755. PMID: 34083181Free PMC Article
He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y
Orphanet J Rare Dis 2020 Aug 3;15(1):200. doi: 10.1186/s13023-020-01485-7. PMID: 32746869Free PMC Article

Diagnosis

Bhat V, Narayanan DL, Shukla A
BMJ Case Rep 2021 Jun 3;14(6) doi: 10.1136/bcr-2020-239755. PMID: 34083181Free PMC Article
He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y
Orphanet J Rare Dis 2020 Aug 3;15(1):200. doi: 10.1186/s13023-020-01485-7. PMID: 32746869Free PMC Article
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ
J Inherit Metab Dis 2015 Nov;38(6):1007-19. Epub 2015 Mar 12 doi: 10.1007/s10545-015-9830-z. PMID: 25762406Free PMC Article

Therapy

Bhat V, Narayanan DL, Shukla A
BMJ Case Rep 2021 Jun 3;14(6) doi: 10.1136/bcr-2020-239755. PMID: 34083181Free PMC Article
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ
J Inherit Metab Dis 2015 Nov;38(6):1007-19. Epub 2015 Mar 12 doi: 10.1007/s10545-015-9830-z. PMID: 25762406Free PMC Article
Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP
J Inherit Metab Dis 2009 Dec;32(6):728-731. Epub 2009 Oct 10 doi: 10.1007/s10545-009-1257-y. PMID: 19821145Free PMC Article

Prognosis

He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y
Orphanet J Rare Dis 2020 Aug 3;15(1):200. doi: 10.1186/s13023-020-01485-7. PMID: 32746869Free PMC Article

Clinical prediction guides

Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP
J Inherit Metab Dis 2009 Dec;32(6):728-731. Epub 2009 Oct 10 doi: 10.1007/s10545-009-1257-y. PMID: 19821145Free PMC Article

Recent systematic reviews

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ
J Inherit Metab Dis 2015 Nov;38(6):1007-19. Epub 2015 Mar 12 doi: 10.1007/s10545-015-9830-z. PMID: 25762406Free PMC Article

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