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
Descripción
Sumario: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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