شنبه 8 اردیبهشت 1403
دوره 7، شماره 1 - ( 10-1397 )
جلد 7 شماره 1 صفحات 60-55 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Alijanpour Aghamaleki M, Rezapour M, Babazadeh K, Zamani H, Aghajanpour F. Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review. J. Pediatr. Rev 2019; 7 (1) :55-60
URL: http://jpr.mazums.ac.ir/article-1-163-fa.html
URL: http://jpr.mazums.ac.ir/article-1-163-fa.html
Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review. Journal of Pediatrics Review. 1397; 7 (1) :55-60
چکیده: (7966 مشاهده)
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.
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.
نوع مطالعه: Case & Review |
دریافت: 1396/9/12 | پذیرش: 1396/11/30 | انتشار: 1397/10/11
دریافت: 1396/9/12 | پذیرش: 1396/11/30 | انتشار: 1397/10/11
فهرست منابع
1. Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, et al. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet Journal of Rare Diseases. 2013; 8:98. [DOI:10.1186/1750-1172-8-98] [PMID] [PMCID] [DOI:10.1186/1750-1172-8-98]
2. Pollitt RJ, Green A, Smith R. Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. Journal of Inherited Metabolic Disease. 1985; 8(2):75-9. [DOI:10.1007/BF01801669] [DOI:10.1007/BF01801669]
3. Kedishvili NY, Popov KM, Rougraff PM, Zhao Y, Crabb D, Harris R. CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution. Journal of Biological Chemistry. 1992; 267(27):19724-9. [PMID] [PMID]
4. Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease. 2000; 23(5):497-504. [DOI:10.1023/A:1005616315087] [PMID] [DOI:10.1023/A:1005616315087]
5. Sass JO, Walter M, Shield JPH, Atherton AM, Garg U, Scott D, et al. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. Journal of Inherited Metabolic Disease. 2012; 35(3):437-42. [DOI:10.1007/s10545-011-9381-x] [PMID] [DOI:10.1007/s10545-011-9381-x]
6. Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL. Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism? Journal of Inherited Metabolic Disease. 1993; 16(3):563-7. [DOI:10.1007/BF00711682] [PMID] [DOI:10.1007/BF00711682]
7. Gray RG, Pollitt RJ, Webley J. Methylmalonic semialdehyde dehydrogenase deficiency: Demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts. Biochemical Medicine and Metabolic Biology. 1987; 38(1):121-4. [DOI:10.1016/0885-4505(87)90069-7] [DOI:10.1016/0885-4505(87)90069-7]
8. Manning NJ, Pollitt RJ. Tracer studies of the interconversion of R-and S-methylmalonic semialdehydes in man. Biochemical Journal. 1985; 231(2):481-4. [DOI:10.1042/bj2310481] [DOI:10.1042/bj2310481]
9. Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C. Methylmalonic semialdehyde dehydrogenase deficiency: Psychomotor delay and methylmalonic aciduria without metabolic decompensation. Molecular Genetics and Metabolism. 1998; 65(1):35-43. [DOI:10.1006/mgme.1998.2737] [PMID] [DOI:10.1006/mgme.1998.2737]
10. Shield J, Gough R, Allen J, Newbury-Ecob R. 3-Hydroxyisobutyric aciduria: Phenotypic heterogeneity within a single family. Clinical Dysmorphology. 2001; 10(3):189-91. [DOI:10.1097/00019605-200107000-00007] [PMID] [DOI:10.1097/00019605-200107000-00007]
11. Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, et al. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Molecular Genetics and Metabolism. 2006; 87(3):243-8. [DOI:10.1016/j.ymgme.2005.09.019] [PMID] [DOI:10.1016/j.ymgme.2005.09.019]
12. Podebrad F, Heil M, Beck T, Mosandl A, Sewell AC, Bohles H. Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry. Clinica Chimica Acta. 2000; 292(1-2):93-105. [DOI: 10.1016/S0009-8981(99)00210-7] [DOI:10.1016/S0009-8981(99)00210-7]
13. Vasiliou V, Nebert DW. Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family. Human Genomics. 2005; 2(2):138-43. [PMID] [PMCID] [PMID] [PMCID]
14. Vasiliou V, Pappa A, Petersen DR. Role of aldehyde dehydrogenases in endogenous and xenobiotic metabolism. Chemico-Biological Interactions. 2000; 129(1-2):1–19. [DOI:10.1016/S0009-2797(00)00211-8] [DOI:10.1016/S0009-2797(00)00211-8]
| بازنشر اطلاعات | |
 |
این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است. |
