Document Type
Journal Article
Publication Date
2014
Journal
Molecular Genetics and Metabolism Reports
Volume
1
Inclusive Pages
237-240
DOI
10.1016/j.ymgmr.2014.04.007
Abstract
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.
Creative Commons License
This work is licensed under a Creative Commons Attribution 3.0 License.
APA Citation
Kruszka, P., Kirmse, B., Zand, D., Cusmano-Ozog, K., Spector, E., Hove, J., & Chapman, K. A. (2014). Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Molecular Genetics and Metabolism Reports, 1 (). http://dx.doi.org/10.1016/j.ymgmr.2014.04.007
Peer Reviewed
1
Open Access
1
Included in
Genetics and Genomics Commons, Hemic and Lymphatic Diseases Commons, Medical Pathology Commons, Pathology Commons
Comments
Reproduced with permission of Elsevier B.V. Molecular Genetics and Metabolism Reports