Propionic acidemia is a metabolic disorder (OMIM 606054) caused by deficiency of 
the propionyl-coenzyme A (CoA) carboxylase, which subsequently results in 
accumulation of propionic acid. Patients may initially present with poor 
feeding, vomiting, loss of appetite, hypotonia, and lethargy. Later, most 
children will show different degrees of motor, social and language delay even 
more serious medical problems, including heart abnormalities, seizures, coma, 
and possibly death. Two siblings affected with propionic acidemia were screened 
for putative mutations in PCCA and PCCB genes coding alpha and beta subunits of 
propionyl-coenzyme A (CoA) carboxylase, respectively. Both patients had a 
mild-severe form of propionic acidemia. The investigations using PCR, long-PCR, 
array comparative genomic hybridization (aCGH), and sequencing techniques showed 
a approximately 73kb deletion extending from intron 16 to intron 19 and an 18bp 
insertion at the distal end of the deletion in PCCA gene. The deletion so far is 
the largest gross change reported in the literature for the PCCA gene.