Miscellaneous metabolic disorders
Evidence-based neurology checklist on miscellaneous metabolic disorders: Biotin metabolism disorders Biotinidase deficiency Holocarboxylase synthetase deficiency Glucose transporter deficiency disorders Purine metabolism disorders Pyruvate metabolism disorders Vitamin metabolism disorders…
Biotin metabolism disorders
- Biotinidase deficiency
- Holocarboxylase synthetase deficiency
Glucose transporter deficiency disorders
Purine metabolism disorders
Pyruvate metabolism disorders
Vitamin metabolism disorders
Miscellaneous inherited metabolic disorders
Other metabolic disorders
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.
