Cobalamin E defect,a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment |
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| Affiliation: | 1. Women’s and Children’s Program, Monash Medical Centre, Clayton, VIC, Australia;2. Metabolic Unit, Genetic Health Services Victoria, Murdoch Children’s Research Institute, Melbourne, VIC, Australia;3. Department of Paediatrics, Monash University, Clayton, VIC, Australia;4. Junior Medical Staff Department, Sydney Children’s Hospital, High Street, Randwick, NSW 2031, Australia;1. Department of Neurosurgery, University Hospital of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany;2. Department of Neuropathology, University Hospital of Bonn, Bonn, Germany;3. Department of Radiosurgery and Stereotactic Radiotherapy, MediClin Robert Janker Clinic, Bonn, Germany;1. Department of Neurological Surgery, University of California at San Francisco, San Francisco, CA, USA;2. Department of Pathology, University of California at San Francisco, San Francisco, CA, USA;3. Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, 676 N. St. Clair St, Suite 2210, Chicago, IL 60611-2911, USA;1. Department of Neurology, Clinical Dementia Center, Georg August University Medical Center, Robert-Koch-Str. 40, 37075 Goettingen, Germany;2. Department of Clinical Chemistry, Georg August University Medical Center, Goettingen, Germany;3. Department of Statistics and Bioinformatics, Georg August University Medical Center, Goettingen, Germany;4. DZNE - German Center for Neurodegenerative Diseases, Germany;1. Department of Neurological Surgery, The Charles Clore Hospitalization Tower, West Wing Sheba Medical Center, Ramat Gan, Israel;2. Department of Pathology, Microbiology, and Immunology, 6439 Garners Ferry Rd., Building 1, Room C27, Columbia, SC 29209, USA;1. Neurosurgery Department, The Walton Centre NHS Foundation Trust, Lower Lane, Fazakerley, Liverpool, L9 7LJ, UK;2. School of Medicine, University of Liverpool, Liverpool, UK;3. Department of Medicine and Medical Mycology, University Hospital of South Manchester, Manchester, UK;4. Microbiology Department, Aintree University Hospital NHS Foundation, Liverpool, UK;5. Otolaryngology Department, The Shrewsbury and Telford Hospital NHS Trust, Shrewsbury, UK;6. Otolaryngology Department, Aintree University Hospital NHS Foundation, Liverpool, UK;7. Neurosurgery Department, Beaumont Hospital, Dublin, Ireland;1. Institute of Brain Science, National Yang-Ming University, Taipei, Taiwan;2. Department of Neurology, National Yang-Ming University, Taipei, Taiwan;3. Institute of Physiology, National Yang-Ming University, Taipei, Taiwan;4. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan;5. Brain Research Center, National Yang-Ming University, Taipei, Taiwan;6. Laboratory of Neurophysiology Taipei Veterans General Hospital, Taipei, Taiwan;7. Department of Neurology, Taipei Veterans General Hospital, No.201, Sec.2, Shih-Pai Road, Taipei 112, Taiwan |
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| Abstract: | Cobalamin and its metabolites play a crucial role in DNA synthesis and cellular energy metabolism. Disorders of cobalamin metabolism are rare, autosomal recessive, conditions that present with neurological dysfunction of varying severity. We report a child with cobalamin E defect presenting in early infancy with vertical nystagmus, developmental delay, deceleration in head growth, status epilepticus and leukoencephalopathy, with only mild haematological abnormalities. Resolution of seizures and subsequent improvement in development and head growth was observed following early treatment with parenteral hydroxocobalamin, betaine, folate and methionine, emphasising the importance of early diagnosis and treatment in these conditions. |
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| Keywords: | cblE Cobalamin Homocysteine Leukoencephalopathy Vitamin B12 |
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