Metabolic disorders

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Author:
Anonymous
ID:
58190
Filename:
Metabolic disorders
Updated:
2011-01-05 06:49:43
Tags:
Urea cycle defects OTC CPSI Citrullinemia
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Description:
Flash cards on features of metabolic disorders
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  1. 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
  2. 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)
  3. What is the chromosomal locus of the gene involved in OTC (ornithine transcarbamylase) deficiency?
    Xp21.1
  4. What is the chromosomal locus of the gene involved in CPSI (carbamoylphosphate synthetase I) deficiency?
    2q35
  5. What is the chromosomal locus of the gene involved in citrullinaemia Type 1 (arginiosuccinate synthetase deficiency)?
    9q34
  6. 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
  7. In which urea cycle defect is orotic acid elevated?
    OTC (ornithine transcarbmylase) deficiency
  8. What are the 2 phenotypes of citrin deficiency?
    • Citrullinaemia type II (CTLN2)
    • Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

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