METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY WITH CARDIAC PRESENTATION: A CASE REPORT WITH LITERATURE REVIEW

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ALIJANPOUR AGHAMALEKI MORTEZA; REZAPOUR MASOMEH; BABAZADEH KAZEM; ZAMANI HASSAN; AGHAJANPOUR FAEZE

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Journal Paper

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Journal: Journal of Pediatrics Review Year:2019 | Volume:7 | Issue:1 (13) Page(s): 55-60

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Title

METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY WITH CARDIAC PRESENTATION: A CASE REPORT WITH LITERATURE REVIEW

Author(s)

Keywords

METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

CARDIAC DISEASE

ALDH6A1

3-HYDROXYISOBUTYRATE

3-HYDROXYPROPIONATE

Abstract

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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APA: Copy

ALIJANPOUR AGHAMALEKI, MORTEZA, REZAPOUR, MASOMEH, BABAZADEH, KAZEM, ZAMANI, HASSAN, & AGHAJANPOUR, FAEZE. (2019). METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY WITH CARDIAC PRESENTATION: A CASE REPORT WITH LITERATURE REVIEW. JOURNAL OF PEDIATRICS REVIEW, 7(1 (13)), 55-60. SID. https://sid.ir/paper/341199/en

Vancouver: Copy

ALIJANPOUR AGHAMALEKI MORTEZA, REZAPOUR MASOMEH, BABAZADEH KAZEM, ZAMANI HASSAN, AGHAJANPOUR FAEZE. METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY WITH CARDIAC PRESENTATION: A CASE REPORT WITH LITERATURE REVIEW. JOURNAL OF PEDIATRICS REVIEW[Internet]. 2019;7(1 (13)):55-60. Available from: https://sid.ir/paper/341199/en

IEEE: Copy

MORTEZA ALIJANPOUR AGHAMALEKI, MASOMEH REZAPOUR, KAZEM BABAZADEH, HASSAN ZAMANI, and FAEZE AGHAJANPOUR, “METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY WITH CARDIAC PRESENTATION: A CASE REPORT WITH LITERATURE REVIEW,” JOURNAL OF PEDIATRICS REVIEW, vol. 7, no. 1 (13), pp. 55–60, 2019, [Online]. Available: https://sid.ir/paper/341199/en

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