Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran

Abstract Objective Methylmalonic acidemia (MMAs) is known as a severe, complex, and lethal disorder of methylmalonate and cobalamin. The patients with MMA may have developmental, neurological, and metabolic disorders such as liver disease. Here, we aim to evaluate 6 Iranian patients suspected to MMA...

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Bibliographic Details
Main Authors: Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo, Bita Geramizadeh
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Pediatrics
Subjects:
Methylmalonic acidemia
Vitamin B12/hydroxocobalamin
Novel mutation
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12887-024-05291-z
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