Metabolic disorders

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?

Xp21.1
What is the chromosomal locus of the gene involved in CPSI (carbamoylphosphate synthetase I) deficiency?

2q35
What is the chromosomal locus of the gene involved in citrullinaemia Type 1 (arginiosuccinate synthetase deficiency)?

9q34
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)

Author

Anonymous

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Card Set

Metabolic disorders

Description

Flash cards on features of metabolic disorders

Updated

2011-01-05T11:49:43Z

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