Amish, Mennonite, and Hutterite
Genetic Disorder Database

Propionic acidemia

Disorder
OMIM #: #606054  (Click to access OMIM database)
Disorder: Propionic acidemia 
Also known as: Propionyl-CoA carboxylase deficiency
PCC deficiency
Glycinemia, ketotic
Hyperglycinemia with ketoacidosis and leukopenia
Ketotic hyperglycinemia 
Clinical
Phenotype: First symptoms appear in infancy; lethargy, hypotonicity, failure to thrive, vomiting. Acute exacerbations occur with infections and increased protein intake; metabolic acidosis, hyperglycinemia, hyperglycinuria, hyperammonemia. If protein intake is not restricted severe symptoms occur; seizures, coma, developmental delay/mental retardation. 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Old Order Mennonite  
Gene: PCCB
Base Change: A>G, at nucleotide 1606
Amino Acid Change: asn 536 --> asp
Last updated: 2019-12-23 

References
Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, and Italiano I. (1994) Mutations participating in interallelic complementation in propionic acidemia. Am J Hum Genet 55(1): 51-58.
PubMed ID: 8023851 
Hannah WB, Dempsey KJ, Schillaci LP, Zacharias M, McCandless SE, Wynshaw-Boris A, Konczal LL, Bedoyan JK. (2019) Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant. Mol Genet Metab Rep Nov 6;21:100537.
PubMed ID: 31844627 
Kidd J, Wolf B, Hsia E, and Kidd K. (1980) Genetics of Propionic Acidemia in a Mennonite-Amish Kindred. Am J Hum Genet 32: 236-245.
PubMed ID: 7386459 
Scott Schwoerer J, Clowes Candadai S, Held PK. (2018) Long-term outcomes in Amish patients diagnosed with propionic acidemia. Mol Genet Metab Rep Jun 22;16:36-38.
PubMed ID: 30013935 

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