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Propionic Acidemia
PCCA and PCCB genes
Propionic acidemia (PA) is an autosomal recessive disorder of organic acid metabolism caused by deficient activity of mitochondrial propionyl-CoA carboxylase. The common clinical presentation includes ketoacidosis, vomiting, lethargy, poor feeding, and hypotonia. Hyperammonemia, seizures and hepatomegaly may also be present. Onset most often occurs in the neonatal period and is associated with developmental delay and early death. Late-onset patients usually have a milder course. In two separate studies looking at patients with PA from diverse ethnic backgrounds, sequencing was able to identify 92-95% of mutant alleles in PCCA and 100% (32 of 32 alleles and 8 of 8 alleles) of mutant alleles in PCCB. The method employed by GeneDx is expected to identify >99% of mutations that are detectable by sequencing.
Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the PCCA and PCCB genes are analyzed. If biochemical or complementation studies have determined which subunit is defective, sequencing of that gene alone may be ordered. Otherwise, each gene may be ordered separately in either order or both genes can be analyzed simultaneously. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
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Propionyl-CoA Carboxylase Deficiency, PCC Deficiency, glycinemia, ketotic, hyperglycinemia with ketoacidosis and leucopenia, ketotic hyperglycinemia, pccAC complementation group, pccBC complementation group, newborn screening, D-methylmalonyl-CoA, catabolism, odd-numbered carbon fatty acids, amino acids, isoleucine, valine, threonine, methionine, ketoacidosis, hyperammonemia, hyperglycinuria, lactic acidosis, carnitine, 3-hydroxypropionate, methylcitrate, propionylglycine, tiglyglycine
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