Literature DB >> 15851736

Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment.

A L Boxer1, J H Kramer, K Johnston, J Goldman, R Finley, B L Miller.   

Abstract

An elevated serum homocysteine level is a risk factor for the development of cognitive impairment. Reported is a late-onset case of hyperhomocystinemia due to a vitamin B12 metabolic deficit (cobalamin C) with cognitive impairment, primarily in frontal/executive function. After homocysteine-lowering therapy, the patient's functional and neuropsychological status improved in conjunction with a decrease in leukoariosis on his MRI scan. These findings suggest that homocysteine-related cognitive impairment may be partially reversible.

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Year:  2005        PMID: 15851736     DOI: 10.1212/01.WNL.0000158476.74580.A8

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  16 in total

Review 1.  Emerging Concepts in Nutrient Needs.

Authors:  Patrick J Stover; Cutberto Garza; Jane Durga; Martha S Field
Journal:  J Nutr       Date:  2020-10-01       Impact factor: 4.798

2.  Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Authors:  Mohammed Almannai; Ronit Marom; Kristian Divin; Fernando Scaglia; V Reid Sutton; William J Craigen; Brendan Lee; Lindsay C Burrage; Brett H Graham
Journal:  Mol Genet Metab       Date:  2017-06-29       Impact factor: 4.797

Review 3.  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 4.  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

5.  A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.

Authors:  Rajdeep Kaur; Savita Verma Attri; Arushi Gahlot Saini; Naveen Sankhyan
Journal:  Amino Acids       Date:  2021-01-30       Impact factor: 3.520

6.  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

7.  Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.

Authors:  Rebecca C Ahrens-Nicklas; Esra Serdaroglu; Colleen Muraresku; Can Ficicioglu
Journal:  JIMD Rep       Date:  2015-03-13

8.  Cognitive and social profiles in two patients with cobalamin C disease.

Authors:  M H Beauchamp; V Anderson; A Boneh
Journal:  J Inherit Metab Dis       Date:  2009-10-15       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

10.  A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.

Authors:  Jenny Bellerose; Mathilde Neugnot-Cerioli; Karine Bédard; Catherine Brunel-Guitton; Grant A Mitchell; Luis H Ospina; Miriam H Beauchamp
Journal:  JIMD Rep       Date:  2015-11-26
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