The flashcards below were created by user
What are the 6 urea cycle disorders?
Carbamoylphosphate synthetase I (CPSI) deficiency - most severe
Ornithine transcarbamylase (OTC) deficiency
Citrullinaemia type I - Argininosuccinate synthetase (ASS) deficiency
Argininosuccinic aciduria - Argininosuccinate lyase (ASL) deficiency
Arginase (ARG) deficiency
N-acetyl glutamate synthetase (NAGS) deficiency
In which urea cycle disorders is citrulline raised?
Those involving deficiency in the distal enzymes of the urea cycle
Citrullinaemia type I - Argininosuccinate synthetase deficiency (raised about 100 fold)
Argininosuccinic aciduria - argininosuccinate lyase deficiency (raised about 10 fold)
What is the chromosomal locus of the gene involved in OTC (ornithine transcarbamylase) deficiency?
What is the chromosomal locus of the gene involved in CPSI (carbamoylphosphate synthetase I) deficiency?
What is the chromosomal locus of the gene involved in citrullinaemia Type 1 (arginiosuccinate synthetase deficiency)?
Is the arginine concentration raised or elevated in the urea cycle disorders?
Reduced in all urea cycle disorders except arginase deficiency, in which it is elevated 5-7 fold
In which urea cycle defect is orotic acid elevated?
OTC (ornithine transcarbmylase) deficiency
What are the 2 phenotypes of citrin deficiency?
Citrullinaemia type II (CTLN2)
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
Urea cycle defects OTC CPSI Citrullinemia
Flash cards on features of metabolic disorders