Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical investigations revealed acylcarnitine and organi...

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Detalles Bibliográficos
Autores principales: Tummolo, Albina, Leone, Piero, Tolomeo, Maria, Solito, Rita, Mattiuzzo, Matteo, Lepri, Francesca Romana, Lorè, Tania, Cardinali, Roberta, De Giovanni, Donatella, Simonetti, Simonetta, Barile, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259400/
https://www.ncbi.nlm.nih.gov/pubmed/35822092
http://dx.doi.org/10.1002/jmd2.12292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259400/
https://www.ncbi.nlm.nih.gov/pubmed/35822092
http://dx.doi.org/10.1002/jmd2.12292

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