Propionic acidemia and anorectal anomalies in three siblings

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Propionic acidemia is an inherited metabolic disorder.
• Ketotic hyperglycinemia is a metabolic consequence of propionic acidemia.

Observation:

• Three siblings presented with recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis.
• Hematologic abnormalities including leukopenia and thrombocytopenia were observed.
• Two siblings had anorectal malformations, specifically imperforate anus with rectoperineal fistula and ectopic anus.

Findings:

• The siblings were diagnosed with ketotic hyperglycinemia secondary to propionic acidemia.
• The co-occurrence of propionic acidemia and anorectal anomalies in multiple siblings from a consanguineous marriage was noted.

Implications:

• The findings suggest an autosomal recessive inheritance pattern for propionic acidemia with associated anomalies.
• Highlights the importance of considering metabolic disorders in neonates with congenital malformations.
• Further research into the genetic basis and clinical management of propionic acidemia is warranted.