Urea cycle metabolism diseases
Evidence-based neurology checklist on urea cycle metabolism diseases: Urea-cycle defects Argininosuccinate synthetase (AS) deficiency Argininosuccinate lyase (AL) deficiency Carbamoyl phosphate synthetase I (CPS I) deficiency N Acetylglutamate synthetase (NAGS) deficiency Ornithine…
Urea-cycle defects
- Argininosuccinate synthetase (AS) deficiency
- Argininosuccinate lyase (AL) deficiency
- Carbamoyl phosphate synthetase I (CPS I) deficiency
- N Acetylglutamate synthetase (NAGS) deficiency
- Ornithine transcarbamylase (OTC) deficiency
References
- Sedel F. Inborn errors of metabolism in adult neurology. Rev Neurol (Paris) 2013; 169(Suppl 1):S63-S69.
- Gray RGF, Preece MA, Green SH, Whitehouse W, Winer J, Green A. Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation. JNNP 2000; 69:5-12.
- Christopher R, Sankaran BP. An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist. Ann Indian Acad Neurol 2008; 11:68-81.
- Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J 1999; 117:251-265.
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