3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis

Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease.

Detalles Bibliográficos
Autores principales: Saneifard, Hedyeh, Mosallanejad, Asieh, Fallahzadeh, Aida, Sheikhy, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299097/
https://www.ncbi.nlm.nih.gov/pubmed/34322265
http://dx.doi.org/10.1002/ccr3.4528
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author Saneifard, Hedyeh
Mosallanejad, Asieh
Fallahzadeh, Aida
Sheikhy, Ali
author_facet Saneifard, Hedyeh
Mosallanejad, Asieh
Fallahzadeh, Aida
Sheikhy, Ali
author_sort Saneifard, Hedyeh
collection PubMed
description Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease.
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spelling pubmed-82990972021-07-27 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis Saneifard, Hedyeh Mosallanejad, Asieh Fallahzadeh, Aida Sheikhy, Ali Clin Case Rep Case Report Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease. John Wiley and Sons Inc. 2021-07-23 /pmc/articles/PMC8299097/ /pubmed/34322265 http://dx.doi.org/10.1002/ccr3.4528 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Saneifard, Hedyeh
Mosallanejad, Asieh
Fallahzadeh, Aida
Sheikhy, Ali
3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
title 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
title_full 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
title_fullStr 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
title_full_unstemmed 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
title_short 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
title_sort 3‐hydroxyisobutyryl‐coa hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299097/
https://www.ncbi.nlm.nih.gov/pubmed/34322265
http://dx.doi.org/10.1002/ccr3.4528
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AT fallahzadehaida 3hydroxyisobutyrylcoahydrolasedeficiencyinaninfantwithdevelopmentaldelayandhighaniongapacidosis
AT sheikhyali 3hydroxyisobutyrylcoahydrolasedeficiencyinaninfantwithdevelopmentaldelayandhighaniongapacidosis

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