Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

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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Bibliographic Details
Main Authors: Paul S. Kruszka, Brian Kirmse, Dina J. Zand, Kristina Cusmano-Ozog, Elaine Spector, Johan L. Van Hove, Kimberly A. Chapman
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Propionic acidemia
Non-ketotic hyperglycinemia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000354

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http://www.sciencedirect.com/science/article/pii/S2214426914000354

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