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, hypotonia, failure to thrive, vomiting, encephalopathy, cerebral atrophy, elevated propionate 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 |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PCCB |
| Base Change: | A>G, at nucleotide 1606 |
| Amino Acid Change: | asn 536 --> asp |
| Last updated: | 2022-11-18 |
| References |
|---|
| Ehrenberg S, Walsh Vockley C, Heiman P, Ammous Z, Wenger O, Vockley J, Ghaloul-Gonzalez L. (2022) Natural history of propionic acidemia in the Amish population. Mol Genet Metab Rep Nov 5;33:100936. PubMed ID: 36393899 |
| 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 |
| Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J. (2017) Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. Genet Med Mar;19(3):352-356. PubMed ID: 27513192 |
| 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 |
| Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA. (2020) Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia. Mol Genet Metab Nov;131(3):316-324. PubMed ID: 33127324 |
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