Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia

Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as hav...

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Detalles Bibliográficos
Autores principales: Bhardwaj, Parveen, Sharma, Ravi, Sharma, Minoo
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087990/
https://www.ncbi.nlm.nih.gov/pubmed/21559159
http://dx.doi.org/10.4103/1817-1745.76110
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author Bhardwaj, Parveen
Sharma, Ravi
Sharma, Minoo
author_facet Bhardwaj, Parveen
Sharma, Ravi
Sharma, Minoo
author_sort Bhardwaj, Parveen
collection PubMed
description Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment.
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spelling pubmed-30879902011-05-10 Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia Bhardwaj, Parveen Sharma, Ravi Sharma, Minoo J Pediatr Neurosci Case Report Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment. Medknow Publications 2010 /pmc/articles/PMC3087990/ /pubmed/21559159 http://dx.doi.org/10.4103/1817-1745.76110 Text en © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Bhardwaj, Parveen
Sharma, Ravi
Sharma, Minoo
Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
title Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
title_full Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
title_fullStr Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
title_full_unstemmed Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
title_short Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
title_sort homocystinuria: a rare condition presenting as stroke and megaloblastic anemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087990/
https://www.ncbi.nlm.nih.gov/pubmed/21559159
http://dx.doi.org/10.4103/1817-1745.76110
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AT sharmaminoo homocystinuriaarareconditionpresentingasstrokeandmegaloblasticanemia

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