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Methylmalonic acidemia with homocystinuria cblC

MedGen UID:
893309
•Concept ID:
CN239025
•
Disease or Syndrome
Synonym: Methylmalonic aciduria with homocystinuria cblC type

Professional guidelines

PubMed

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Myles JG, Manoli I, Venditti CP
Curr Opin Clin Nutr Metab Care 2018 Jan;21(1):42-48. doi: 10.1097/MCO.0000000000000428. PMID: 29035969Free PMC Article
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Zong Y, Liu N, Zhao Z, Kong X
BMC Med Genet 2015 Jul 7;16:48. doi: 10.1186/s12881-015-0196-8. PMID: 26149271Free PMC Article
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N, Chandler RJ, Venditti CP
J Inherit Metab Dis 2012 Jan;35(1):91-102. Epub 2011 Jul 12 doi: 10.1007/s10545-011-9364-y. PMID: 21748409Free PMC Article

Recent clinical studies

Etiology

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
Hwang N, Jang JH, Cho EH, Choi R, Choi SJ, Park HD
Mol Genet Genomic Med 2021 Nov;9(11):e1838. Epub 2021 Oct 16 doi: 10.1002/mgg3.1838. PMID: 34655177Free PMC Article
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang N, Gong LF, Zhao JQ, Yang HH, Ma ZJ, Liu W, Wan ZH, Kong YY
J Pediatr Endocrinol Metab 2020 May 26;33(5):639-645. doi: 10.1515/jpem-2019-0420. PMID: 32304307
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
Gizicki R, Robert MC, Gómez-López L, Orquin J, Decarie JC, Mitchell GA, Roy MS, Ospina LH
Ophthalmology 2014 Jan;121(1):381-386. Epub 2013 Oct 11 doi: 10.1016/j.ophtha.2013.08.034. PMID: 24126030
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Carrillo-Carrasco N, Venditti CP
J Inherit Metab Dis 2012 Jan;35(1):103-14. Epub 2011 Jul 12 doi: 10.1007/s10545-011-9365-x. PMID: 21748408Free PMC Article
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S435-42. Epub 2010 Oct 6 doi: 10.1007/s10545-010-9217-0. PMID: 20924684

Diagnosis

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Han B, Cao Z, Tian L, Zou H, Yang L, Zhu W, Liu Y
Brain Dev 2016 May;38(5):491-7. Epub 2015 Nov 10 doi: 10.1016/j.braindev.2015.10.016. PMID: 26563984
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Liu Y, Wang Q, Li X, Ding Y, Song J, Yang Y
Brain Dev 2015 Mar;37(3):286-91. Epub 2014 Jun 25 doi: 10.1016/j.braindev.2014.06.007. PMID: 24974159
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N, Chandler RJ, Venditti CP
J Inherit Metab Dis 2012 Jan;35(1):91-102. Epub 2011 Jul 12 doi: 10.1007/s10545-011-9364-y. PMID: 21748409Free PMC Article
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Carrillo-Carrasco N, Venditti CP
J Inherit Metab Dis 2012 Jan;35(1):103-14. Epub 2011 Jul 12 doi: 10.1007/s10545-011-9365-x. PMID: 21748408Free PMC Article
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S435-42. Epub 2010 Oct 6 doi: 10.1007/s10545-010-9217-0. PMID: 20924684

Therapy

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Nguyen MG, Tronick L, Modirian F, Mardach R, Besterman AD
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006179. PMID: 35105663Free PMC Article
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Myles JG, Manoli I, Venditti CP
Curr Opin Clin Nutr Metab Care 2018 Jan;21(1):42-48. doi: 10.1097/MCO.0000000000000428. PMID: 29035969Free PMC Article
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP
Ophthalmology 2016 Mar;123(3):571-82. Epub 2016 Jan 26 doi: 10.1016/j.ophtha.2015.10.041. PMID: 26825575Free PMC Article
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R
Ophthalmic Genet 2015;36(3):270-5. doi: 10.3109/13816810.2015.1010736. PMID: 25687216Free PMC Article
Treatment of cobalamin C (cblC) deficiency during pregnancy.
Brunel-Guitton C, Costa T, Mitchell GA, Lambert M
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S409-12. Epub 2010 Sep 10 doi: 10.1007/s10545-010-9202-7. PMID: 20830523

Prognosis

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Myles JG, Manoli I, Venditti CP
Curr Opin Clin Nutr Metab Care 2018 Jan;21(1):42-48. doi: 10.1097/MCO.0000000000000428. PMID: 29035969Free PMC Article
Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.
Whitaker AM, Thomas NH, Krivitzky LS, Ficicioglu CH
Appl Neuropsychol Child 2018 Apr-Jun;7(2):143-149. Epub 2017 Jan 10 doi: 10.1080/21622965.2016.1270211. PMID: 28071971
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP
Ophthalmology 2016 Mar;123(3):571-82. Epub 2016 Jan 26 doi: 10.1016/j.ophtha.2015.10.041. PMID: 26825575Free PMC Article
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Liu Y, Wang Q, Li X, Ding Y, Song J, Yang Y
Brain Dev 2015 Mar;37(3):286-91. Epub 2014 Jun 25 doi: 10.1016/j.braindev.2014.06.007. PMID: 24974159
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
Gizicki R, Robert MC, Gómez-López L, Orquin J, Decarie JC, Mitchell GA, Roy MS, Ospina LH
Ophthalmology 2014 Jan;121(1):381-386. Epub 2013 Oct 11 doi: 10.1016/j.ophtha.2013.08.034. PMID: 24126030

Clinical prediction guides

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang N, Gong LF, Zhao JQ, Yang HH, Ma ZJ, Liu W, Wan ZH, Kong YY
J Pediatr Endocrinol Metab 2020 May 26;33(5):639-645. doi: 10.1515/jpem-2019-0420. PMID: 32304307
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
Myles JG, Manoli I, Venditti CP
Curr Opin Clin Nutr Metab Care 2018 Jan;21(1):42-48. doi: 10.1097/MCO.0000000000000428. PMID: 29035969Free PMC Article
Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.
Whitaker AM, Thomas NH, Krivitzky LS, Ficicioglu CH
Appl Neuropsychol Child 2018 Apr-Jun;7(2):143-149. Epub 2017 Jan 10 doi: 10.1080/21622965.2016.1270211. PMID: 28071971
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP
Ophthalmology 2016 Mar;123(3):571-82. Epub 2016 Jan 26 doi: 10.1016/j.ophtha.2015.10.041. PMID: 26825575Free PMC Article
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.
Caterino M, Pastore A, Strozziero MG, Di Giovamberardino G, Imperlini E, Scolamiero E, Ingenito L, Boenzi S, Ceravolo F, Martinelli D, Dionisi-Vici C, Ruoppolo M
J Inherit Metab Dis 2015 Sep;38(5):969-79. Epub 2015 Jan 14 doi: 10.1007/s10545-014-9806-4. PMID: 25585586

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