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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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:
Online Access:http://jpr.mazums.ac.ir/browse.php?a_code=A-10-285-1&slc_lang=en&sid=1
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spelling doaj-26ca4b30d8424ee6aad818c0eace429d2020-11-25T00:27:34ZengMazandaran University of Medical SciencesJournal of Pediatrics Review2322-43982322-44012019-01-01715560Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature ReviewMorteza Alijanpour Aghamaleki0Masoomeh Rezapour1Kazem Babazadeh2Hassan Zamani3Faeze Aghajanpour4 Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. Department of Medical Sciences History, School of Traditional Medicine, Babol University of Medical Sciences, Babol, Iran. Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. Department of Pediatrics, Shahid Modarres Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Department of Statistics, Faculty of Mathematics and Statistics, University of Mazandaran, Babolsar, Iran. 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 (MMSDHD) and cardiac symptoms. He had a mutated ALDH6A1 gene, c.184c>G (p.Pro62Ala). Conclusions: This is one of the rare case reports in the world and the first one in Iran that reports MMSDHD with cardiac disease.http://jpr.mazums.ac.ir/browse.php?a_code=A-10-285-1&slc_lang=en&sid=1Methylmalonate-semialdehyde dehydrogenase deficiencyCardiac diseaseALDH6A13-Hydroxyisobutyrate3-Hydroxypropionate
collection DOAJ
language English
format Article
sources DOAJ
author Morteza Alijanpour Aghamaleki
Masoomeh Rezapour
Kazem Babazadeh
Hassan Zamani
Faeze Aghajanpour
spellingShingle Morteza Alijanpour Aghamaleki
Masoomeh Rezapour
Kazem Babazadeh
Hassan Zamani
Faeze Aghajanpour
Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
Journal of Pediatrics Review
Methylmalonate-semialdehyde dehydrogenase deficiency
Cardiac disease
ALDH6A1
3-Hydroxyisobutyrate
3-Hydroxypropionate
author_facet Morteza Alijanpour Aghamaleki
Masoomeh Rezapour
Kazem Babazadeh
Hassan Zamani
Faeze Aghajanpour
author_sort Morteza Alijanpour Aghamaleki
title Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
title_short Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
title_full Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
title_fullStr Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
title_full_unstemmed Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
title_sort methylmalonate-semialdehyde dehydrogenase deficiency with cardiac presentation: a case report with literature review
publisher Mazandaran University of Medical Sciences
series Journal of Pediatrics Review
issn 2322-4398
2322-4401
publishDate 2019-01-01
description 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 (MMSDHD) and cardiac symptoms. He had a mutated ALDH6A1 gene, c.184c>G (p.Pro62Ala). Conclusions: This is one of the rare case reports in the world and the first one in Iran that reports MMSDHD with cardiac disease.
topic Methylmalonate-semialdehyde dehydrogenase deficiency
Cardiac disease
ALDH6A1
3-Hydroxyisobutyrate
3-Hydroxypropionate
url http://jpr.mazums.ac.ir/browse.php?a_code=A-10-285-1&slc_lang=en&sid=1
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AT hassanzamani methylmalonatesemialdehydedehydrogenasedeficiencywithcardiacpresentationacasereportwithliteraturereview
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