Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review

Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review

Background: Methylmalonate-semialdehyde Dehydrogenase Deficiency (MMSDHD) is an uncommon autosomal recessive disorder. MMSDH is an enzyme encoded by the protein coding gene ALDH6A1 in humans. Case Presentation: We present a 4-year-old boy with elevated liver enzymes, 3-hydroxyisobutyric aciduria (MM...

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Bibliographic Details
Main Authors: Morteza Alijanpour Aghamaleki, Masoomeh Rezapour, Kazem Babazadeh, Hassan Zamani, Faeze Aghajanpour
Format: Article
Language:English
Published: Mazandaran University of Medical Sciences 2019-01-01
Series:Journal of Pediatrics Review
Subjects:
Methylmalonate-semialdehyde dehydrogenase deficiency
Cardiac disease
ALDH6A1
3-Hydroxyisobutyrate
3-Hydroxypropionate
Online Access:http://jpr.mazums.ac.ir/browse.php?a_code=A-10-285-1&slc_lang=en&sid=1

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http://jpr.mazums.ac.ir/browse.php?a_code=A-10-285-1&slc_lang=en&sid=1

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