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Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
BACKGROUND: Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalonic acid...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507264/ https://www.ncbi.nlm.nih.gov/pubmed/32957924 http://dx.doi.org/10.1186/s12881-020-01122-x |
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author | Chen, Ru-Yue Li, Xiao-Zhong Lin, Qiang Zhu, Yun Shen, Yun-Yan Xu, Qin-Ying Zhu, Xue-Ming Chen, Lin-Qi Wu, Hai-Ying Chen, Xu-Qin |
author_facet | Chen, Ru-Yue Li, Xiao-Zhong Lin, Qiang Zhu, Yun Shen, Yun-Yan Xu, Qin-Ying Zhu, Xue-Ming Chen, Lin-Qi Wu, Hai-Ying Chen, Xu-Qin |
author_sort | Chen, Ru-Yue |
collection | PubMed |
description | BACKGROUND: Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalonic acidemia (MMA) and homocysteinemia is misdiagnosed due to a lack of specific symptoms. The clinical manifestations are diverse, but proteinuria as the initial presentation is rare. CASE PRESENTATION: Two cases of MMA with homocysteinemia in children are reported. Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively). Screening of amino acids and acyl carnitine in serum showed that the propionyl carnitine:acetylcarnitine ratio increased. Profiling of urinary organic acids by gas chromatography–mass spectrometry revealed high levels of methylmalonic acid. Homocysteine content in blood was increased. Comprehensive genetic analyses of peripheral blood-derived DNA demonstrated heterozygous variants of methylmalonic aciduria type C and homocystinuria (MMACHC) and amnionless (AMN) genes in our two patients, respectively. After active treatment, the clinical manifestations in Case 1 were relieved and urinary protein ceased to be observed; Case 2 had persistent proteinuria and was lost to follow-up. CONCLUSIONS: Analyses of the organic acids in blood and urine suggested MMA combined with homocysteinemia. In such diseases, reports of renal damage are uncommon and proteinuria as the initial presentation is rare. Molecular analysis indicated two different genetic causes. Although the pathologic mechanisms were related to vitamin B12, the severity and prognosis of renal lesions were different. Therefore, gene detection provides new insights into inherited metabolic diseases. |
format | Online Article Text |
id | pubmed-7507264 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-75072642020-09-23 Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report Chen, Ru-Yue Li, Xiao-Zhong Lin, Qiang Zhu, Yun Shen, Yun-Yan Xu, Qin-Ying Zhu, Xue-Ming Chen, Lin-Qi Wu, Hai-Ying Chen, Xu-Qin BMC Med Genet Case Report BACKGROUND: Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalonic acidemia (MMA) and homocysteinemia is misdiagnosed due to a lack of specific symptoms. The clinical manifestations are diverse, but proteinuria as the initial presentation is rare. CASE PRESENTATION: Two cases of MMA with homocysteinemia in children are reported. Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively). Screening of amino acids and acyl carnitine in serum showed that the propionyl carnitine:acetylcarnitine ratio increased. Profiling of urinary organic acids by gas chromatography–mass spectrometry revealed high levels of methylmalonic acid. Homocysteine content in blood was increased. Comprehensive genetic analyses of peripheral blood-derived DNA demonstrated heterozygous variants of methylmalonic aciduria type C and homocystinuria (MMACHC) and amnionless (AMN) genes in our two patients, respectively. After active treatment, the clinical manifestations in Case 1 were relieved and urinary protein ceased to be observed; Case 2 had persistent proteinuria and was lost to follow-up. CONCLUSIONS: Analyses of the organic acids in blood and urine suggested MMA combined with homocysteinemia. In such diseases, reports of renal damage are uncommon and proteinuria as the initial presentation is rare. Molecular analysis indicated two different genetic causes. Although the pathologic mechanisms were related to vitamin B12, the severity and prognosis of renal lesions were different. Therefore, gene detection provides new insights into inherited metabolic diseases. BioMed Central 2020-09-21 /pmc/articles/PMC7507264/ /pubmed/32957924 http://dx.doi.org/10.1186/s12881-020-01122-x Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Chen, Ru-Yue Li, Xiao-Zhong Lin, Qiang Zhu, Yun Shen, Yun-Yan Xu, Qin-Ying Zhu, Xue-Ming Chen, Lin-Qi Wu, Hai-Ying Chen, Xu-Qin Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
title | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
title_full | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
title_fullStr | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
title_full_unstemmed | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
title_short | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
title_sort | proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507264/ https://www.ncbi.nlm.nih.gov/pubmed/32957924 http://dx.doi.org/10.1186/s12881-020-01122-x |
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