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: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mazandaran University of Medical Sciences
2019-01-01
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| 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 |
| Summary: | 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. |
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| ISSN: | 2322-4398 2322-4401 |