When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
- Jan-Niclas Schwade,
- Matthias Endmann,
- Thomas Hofmann,
- Stephan Rust,
- Jörn Oliver Sass,
- Frank Rutsch
J Pediatr Endocrinol Metab 2017 Aug 18. Epub 2017 Aug 18.
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. Read More