Literature DB >> 15069409

Cerebral edema associated with betaine treatment in classical homocystinuria.

A M Devlin1, L Hajipour, A Gholkar, H Fernandes, V Ramesh, A A M Morris.   

Abstract

A child with cystathionine beta-synthase deficiency developed cerebral edema 4 to 6 weeks after starting betaine therapy. There was no evidence of intracranial thrombosis, but there was widespread edema of the white matter. He recovered fully after emergency decompressive craniotomy and withdrawal of betaine.

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Year:  2004        PMID: 15069409     DOI: 10.1016/j.jpeds.2003.12.041

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  15 in total

1.  Characteristic MR imaging changes in severe hypermethioninemic states.

Authors:  Nancy E Braverman; S Harvey Mudd; Peter B Barker; Martin G Pomper
Journal:  AJNR Am J Neuroradiol       Date:  2005 Nov-Dec       Impact factor: 3.825

2.  Attenuated brain lesion on magnetic resonance imaging in an adult patient with methionine adenosyltransferase I/III deficiency.

Authors:  Ubuka Maruta; Taro Shimono; Daisuke Tokuhara; Yoshiko Hanayama; Yukio Miki
Journal:  Neurol Sci       Date:  2017-02-28       Impact factor: 3.307

3.  Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

Authors:  Charles Q Li; Bruce A Barshop; Annette Feigenbaum; Paritosh C Khanna
Journal:  J Radiol Case Rep       Date:  2018-01-31

Review 4.  Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Authors:  Anna J Esser; Srijan Mukherjee; Ilia A Dereven'kov; Sergei V Makarov; Donald W Jacobsen; Ute Spiekerkoetter; Luciana Hannibal
Journal:  iScience       Date:  2022-08-18

5.  Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

Authors:  Ivo Barić; Sahin Erdol; Halil Saglam; Mila Lovrić; Robert Belužić; Oliver Vugrek; Henk J Blom; Ksenija Fumić
Journal:  JIMD Rep       Date:  2016-05-21

6.  MRI and (1)H-MRS in adenosine kinase deficiency.

Authors:  C Staufner; H J Blom; C Dionisi-Vici; P Freisinger; N Makhseed; D Ballhausen; S Kölker; G F Hoffmann; I Harting
Journal:  Neuroradiology       Date:  2016-03-18       Impact factor: 2.804

7.  Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.

Authors:  N Vatanavicharn; B D Pressman; W R Wilcox
Journal:  J Inherit Metab Dis       Date:  2008-01-22       Impact factor: 4.982

8.  Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

Authors:  Sapna Gupta; Liqun Wang; Warren D Kruger
Journal:  J Inherit Metab Dis       Date:  2015-08-01       Impact factor: 4.982

Review 9.  Inherited disorders in the conversion of methionine to homocysteine.

Authors:  Ivo Barić
Journal:  J Inherit Metab Dis       Date:  2009-07-07       Impact factor: 4.982

Review 10.  Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Authors:  Andrew A M Morris; Viktor Kožich; Saikat Santra; Generoso Andria; Tawfeg I M Ben-Omran; Anupam B Chakrapani; Ellen Crushell; Mick J Henderson; Michel Hochuli; Martina Huemer; Miriam C H Janssen; Francois Maillot; Philip D Mayne; Jenny McNulty; Tara M Morrison; Helene Ogier; Siobhan O'Sullivan; Markéta Pavlíková; Isabel Tavares de Almeida; Allyson Terry; Sufin Yap; Henk J Blom; Kimberly A Chapman
Journal:  J Inherit Metab Dis       Date:  2016-10-24       Impact factor: 4.982

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