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  1. Article ; Online: Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

    Scalais, Emmanuel / Geron, Christine / Pierron, Charlotte / Cardillo, Sandra / Schlesser, Vincent / Mataigne, Frédéric / Borde, Patricia / Regal, Luc

    Molecular genetics and metabolism

    2023  Volume 140, Issue 3, Page(s) 107681

    Abstract: In early-onset (EO) cblC deficiency (MMACHC), hydroxocobalamin dose-intensification (OHCBL-DI) improved biochemical and clinical outcome. In mammals, Cobalamin is reduced, in a reaction mediated by MMACHC. Pathogenic variants in MMACHC disrupt the ... ...

    Abstract In early-onset (EO) cblC deficiency (MMACHC), hydroxocobalamin dose-intensification (OHCBL-DI) improved biochemical and clinical outcome. In mammals, Cobalamin is reduced, in a reaction mediated by MMACHC. Pathogenic variants in MMACHC disrupt the synthesis pathway of methyl-cobalamin (MetCbl) and 5'-deoxy-adenosyl-cobalamin (AdoCbl), cofactors for both methionine synthase (MS) and methyl-malonyl-CoA mutase (MCM) enzymes. In 5 patients (pts.), with EO cblC deficiency, biochemical and clinical responses were studied following OHCbl-DI (mean ± SD 6,5 ± 3,3 mg/kg/day), given early, before age 5 months (pts. 1, 2, 3 and 4) or lately, at age 5 years (pt. 5). In all pts., total homocysteine (tHcy), methyl-malonic acid (MMA) and Cob(III)alamin levels were measured. Follow-up was performed during 7
    MeSH term(s) Child, Preschool ; Humans ; Infant ; Male ; Cognitive Dysfunction/drug therapy ; Homocystinuria/drug therapy ; Homocystinuria/genetics ; Hydroxocobalamin/therapeutic use ; Macular Degeneration/drug therapy ; Mammals ; Oxidoreductases ; Vitamin B 12/metabolism ; Vitamin B 12 Deficiency/drug therapy
    Chemical Substances Hydroxocobalamin (Q40X8H422O) ; MMACHC protein, human (EC 1.-) ; Oxidoreductases (EC 1.-) ; Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2023-08-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2023.107681
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 617: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Peripheral (Seventh) Nerve Palsy and Multiple Sclerosis: A Diagnostic Dilemma - A Case Report.

    Saleh, Christian / Patsi, Olga / Mataigne, Frederic / Beyenburg, Stefan

    Case reports in neurology

    2016  Volume 8, Issue 1, Page(s) 27–33

    Abstract: During the last decades, only a few cases on the association between peripheral demyelinating diseases and multiple sclerosis (MS) have been reported. We describe the case of a young man who was initially diagnosed with Bell's palsy, and only after ... ...

    Abstract During the last decades, only a few cases on the association between peripheral demyelinating diseases and multiple sclerosis (MS) have been reported. We describe the case of a young man who was initially diagnosed with Bell's palsy, and only after performing a brain MRI was the diagnosis of MS made. We review the literature and discuss some pitfalls which may lead to missing the diagnosis of MS.
    Language English
    Publishing date 2016-01-23
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2505302-4
    ISSN 1662-680X
    ISSN 1662-680X
    DOI 10.1159/000443681
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Peripheral (Seventh) Nerve Palsy and Multiple Sclerosis: A Diagnostic Dilemma - A Case Report

    Saleh, Christian / Patsi, Olga / Mataigne, Frederic / Beyenburg, Stefan

    Case Reports in Neurology

    2016  Volume 8, Issue 1, Page(s) 27–33

    Abstract: During the last decades, only a few cases on the association between peripheral demyelinating diseases and multiple sclerosis (MS) have been reported. We describe the case of a young man who was initially diagnosed with Bell's palsy, and only after ... ...

    Institution Departments of Neurology and Neuroradiology, Centre Hospitaleir de Luxembourg, Luxembourg
    Abstract During the last decades, only a few cases on the association between peripheral demyelinating diseases and multiple sclerosis (MS) have been reported. We describe the case of a young man who was initially diagnosed with Bell's palsy, and only after performing a brain MRI was the diagnosis of MS made. We review the literature and discuss some pitfalls which may lead to missing the diagnosis of MS.
    Keywords Multiple sclerosis ; Peripheral demyelinating disease ; Seventh nerve palsy ; Isolated idiopathic peripheral facial palsy ; Bell’s palsy
    Language English
    Publishing date 2016-01-23
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Published: January 2016 ; This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC).
    ZDB-ID 2505302-4
    ISSN 1662-680X ; 1662-680X
    ISSN (online) 1662-680X
    ISSN 1662-680X
    DOI 10.1159/000443681
    Database Karger publisher's database

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  4. Article ; Online: X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

    Scalais, Emmanuel / Osterheld, Elise / Weitzel, Christiane / De Meirleir, Linda / Mataigne, Frederic / Martens, Geert / Shaikh, Tamim H / Coughlin, Curtis R / Yu, Hung-Chun / Swanson, Michael / Friederich, Marisa W / Scharer, Gunter / Helbling, Daniel / Wendt-Andrae, Jamie / Van Hove, Johan L K

    Pediatric neurology

    2017  Volume 71, Page(s) 65–69

    Abstract: Background: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio ... ...

    Abstract Background: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia.
    Methods: We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, subsequently evolving into refractory epilepsy and severe neurocognitive impairment.
    Results: Increased cerebrospinal fluid glycine and cerebrospinal fluid to plasma glycine ratio were indicative of nonketotic hyperglycinemia. Early magnetic resonance imaging showed restricted diffusion and decreased apparent diffusion coefficient values in posterior limb of internal capsules and later in entire internal capsules and posterior white matter. Sequencing did not show a mutation in AMT, GLDC, or GCSH. Biochemical analysis identified persistently increased cerebrospinal fluid levels of glycine and methylmalonic acid and increased urinary methylmalonic acid and plasma homocysteine levels, which improved on higher parenteral hydroxocobalamin dose. Exome sequencing identified a known pathogenic sequence variant in X-linked cobalamin (HCFC1), c.344C>T, p. Ala115Val. In addition, a hemizygous mutation was found in the ATRX (c. 2728A>G, p. Lys910Glu). Retrospective review of two other patients with X-linked cobalamin deficiency also identified increased cerebrospinal fluid glycine levels.
    Conclusions: This boy had X-linked cobalamin deficiency (HCFC1) with increased cerebrospinal fluid glycine and methylmalonic acid and increased cerebrospinal fluid to plasma glycine ratio suggesting a brain hyperglycinemia. Putative binding sites for HCFC1 and its binding partner THAP11 were identified near genes of the glycine cleavage enzyme, providing a potential mechanistic link between HCFC1 mutations and increased glycine.
    Language English
    Publishing date 2017-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2016.12.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2260: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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