[Skip to Content]
[Skip to Content Landing]
Article
December 1977

Propionic Acidemia and Anorectal Anomalies in Three Siblings

Am J Dis Child. 1977;131(12):1379-1381. doi:10.1001/archpedi.1977.02120250061009
Abstract

• 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.

(Am J Dis Child 131:1379-1381, 1977)

×