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...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121296/
https://ncbi.nlm.nih.gov/pubmed/27896094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.04.007
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