Literature DB >> 11261516

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.

J M Powers1, D S Rosenblatt, R E Schmidt, A H Cross, J T Black, A B Moser, H W Moser, D J Morgan.   

Abstract

Two adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to cerebral perivascular demyelination. The recognition of cobalamin C deficiency has practical implications because it is one of the few inherited diseases of central white matter that is treatable.

Entities:  

Mesh：

Year:  2001        PMID： 11261516

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  15 in total

1.  Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.

Authors:  Yanping Wei; Yan Zhou; Jing Yuan; Jun Ni; Min Qian; Liying Cui; Bin Peng
Journal:  J Neurol       Date:  2019-06-15       Impact factor: 4.849

Review 2.  Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Authors:  Nuria Carrillo-Carrasco; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

Review 3.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

4.  Treatment of cobalamin C (cblC) deficiency during pregnancy.

Authors:  Catherine Brunel-Guitton; Teresa Costa; Grant A Mitchell; Marie Lambert
Journal:  J Inherit Metab Dis       Date:  2010-09-10       Impact factor: 4.982

Review 5.  Cobalamin C defect: natural history, pathophysiology, and treatment.

Authors:  Diego Martinelli; Federica Deodato; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2010-07-15       Impact factor: 4.982

Review 6.  Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.

Authors:  Karim Matmat; Rosa-Maria Guéant-Rodriguez; Abderrahim Oussalah; Arnaud Wiedemann-Fodé; Carlo Dionisi-Vici; David Coelho; Jean-Louis Guéant; Jean-Baptiste Conart
Journal:  Hum Genet       Date:  2021-10-15       Impact factor: 5.881

7.  Enamel defects and salivary methylmalonate in methylmalonic acidemia.

Authors:  C W Bassim; J T Wright; J P Guadagnini; R Muralidharan; J Sloan; D L Domingo; C P Venditti; T C Hart
Journal:  Oral Dis       Date:  2009-01-09       Impact factor: 3.511

Review 8.  Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors:  F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

9.  Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Authors:  Sheng-Jun Wang; Chuan-Zhu Yan; Yi-Ming Liu; Yu-Ying Zhao
Journal:  Metab Brain Dis       Date:  2018-01-26       Impact factor: 3.584

Review 10.  Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

Authors:  Martina Huemer; Sabine Scholl-Bürgi; Karine Hadaya; Ilse Kern; Ronny Beer; Klaus Seppi; Brian Fowler; Matthias R Baumgartner; Daniela Karall
Journal:  Orphanet J Rare Dis       Date:  2014-11-15       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.