Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy. Molecular genetics and metabolism reports Kruszka, P. S., Kirmse, B., Zand, D. J., Cusmano-Ozog, K., Spector, E., Van Hove, J. L., Chapman, K. A. 2014; 1: 237-240


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.

View details for DOI 10.1016/j.ymgmr.2014.04.007

View details for PubMedID 27896094

View details for PubMedCentralID PMC5121296