December 1977

Propionic Acidemia and Anorectal Anomalies in Three Siblings

Author Affiliations

From the Department of Pediatrics B and Neonatology, Bikur Cholim General Hospital, Jerusalem, Israel. Dr Branski is now with Children's Hospital, Buffalo, NY.

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

• 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)