Propionic acidemia and anorectal anomalies in three siblings.
Three siblings suffering from recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis were diagnosed as having ketotic hyperglycinemia secondary to propionic acidemia. They also had leukopenia and thrombocytopenia, and two of them had anorectal malformations, one an imperforate anus with rectoperineal fistula, and the other an ectopic anus. The occurrence of propionic acidemia and anorectal anomalies in three siblings out of eight children in a consanguineous marriage suggests an autosomal recessive genetic inheritance.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007662:Ketosis / Q000097:blood; D008297:Male; D011422:Propionates / Q000097:blood*
D011422:Propionates; D005998:Glycine