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Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsC...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121296/ https://www.ncbi.nlm.nih.gov/pubmed/27896094 http://dx.doi.org/10.1016/j.ymgmr.2014.04.007 |
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author | Kruszka, Paul S. Kirmse, Brian Zand, Dina J. Cusmano-Ozog, Kristina Spector, Elaine Van Hove, Johan L. Chapman, Kimberly A. |
author_facet | Kruszka, Paul S. Kirmse, Brian Zand, Dina J. Cusmano-Ozog, Kristina Spector, Elaine Van Hove, Johan L. Chapman, Kimberly A. |
author_sort | Kruszka, Paul S. |
collection | PubMed |
description | This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been placed on ketogenic diet, he became lethargic and had severe metabolic acidosis with ketonuria. Urine organic acid analysis and plasma acylcarnitine profile were consistent with propionic acidemia. He was found to have an apparently homozygous mutation in the PCCB gene: c.49C>A; p.Leu17Met. The patient was also treated with natural protein restriction, carnitine, biotin, and thiamine and had subjective and biochemical improvement. |
format | Online Article Text |
id | pubmed-5121296 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-51212962016-11-28 Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy Kruszka, Paul S. Kirmse, Brian Zand, Dina J. Cusmano-Ozog, Kristina Spector, Elaine Van Hove, Johan L. Chapman, Kimberly A. Mol Genet Metab Rep Case Report This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been placed on ketogenic diet, he became lethargic and had severe metabolic acidosis with ketonuria. Urine organic acid analysis and plasma acylcarnitine profile were consistent with propionic acidemia. He was found to have an apparently homozygous mutation in the PCCB gene: c.49C>A; p.Leu17Met. The patient was also treated with natural protein restriction, carnitine, biotin, and thiamine and had subjective and biochemical improvement. Elsevier 2014-05-22 /pmc/articles/PMC5121296/ /pubmed/27896094 http://dx.doi.org/10.1016/j.ymgmr.2014.04.007 Text en © 2014 The Authors http://creativecommons.org/licenses/by/3.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/). |
spellingShingle | Case Report Kruszka, Paul S. Kirmse, Brian Zand, Dina J. Cusmano-Ozog, Kristina Spector, Elaine Van Hove, Johan L. Chapman, Kimberly A. Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
title | Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
title_full | Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
title_fullStr | Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
title_full_unstemmed | Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
title_short | Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
title_sort | concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121296/ https://www.ncbi.nlm.nih.gov/pubmed/27896094 http://dx.doi.org/10.1016/j.ymgmr.2014.04.007 |
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