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...
| Main Authors: | , , , , |
|---|---|
| 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 |
| _version_ | 1819111566414446592 |
|---|---|
| author | Morteza Alijanpour Aghamaleki Masoomeh Rezapour Kazem Babazadeh Hassan Zamani Faeze Aghajanpour |
| author_facet | Morteza Alijanpour Aghamaleki Masoomeh Rezapour Kazem Babazadeh Hassan Zamani Faeze Aghajanpour |
| author_sort | Morteza Alijanpour Aghamaleki |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-22T03:59:39Z |
| format | Article |
| id | doaj.art-26ca4b30d8424ee6aad818c0eace429d |
| institution | Directory Open Access Journal |
| issn | 2322-4398 2322-4401 |
| language | English |
| last_indexed | 2024-12-22T03:59:39Z |
| publishDate | 2019-01-01 |
| publisher | Mazandaran University of Medical Sciences |
| record_format | Article |
| series | Journal of Pediatrics Review |
| spelling | doaj.art-26ca4b30d8424ee6aad818c0eace429d2022-12-21T18:39:47ZengMazandaran 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 |
| 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 |
| title | 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_short | 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 |
| 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 |
| work_keys_str_mv | AT mortezaalijanpouraghamaleki methylmalonatesemialdehydedehydrogenasedeficiencywithcardiacpresentationacasereportwithliteraturereview AT masoomehrezapour methylmalonatesemialdehydedehydrogenasedeficiencywithcardiacpresentationacasereportwithliteraturereview AT kazembabazadeh methylmalonatesemialdehydedehydrogenasedeficiencywithcardiacpresentationacasereportwithliteraturereview AT hassanzamani methylmalonatesemialdehydedehydrogenasedeficiencywithcardiacpresentationacasereportwithliteraturereview AT faezeaghajanpour methylmalonatesemialdehydedehydrogenasedeficiencywithcardiacpresentationacasereportwithliteraturereview |