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Propionic acidemia and anorectal anomalies in three siblings
Insights
Propionic acidemia, a metabolic disorder, caused ketotic hyperglycinemia in three siblings. The condition was linked to leukopenia, thrombocytopenia, and anorectal malformations, suggesting a genetic link.
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.
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.