Metabolic disorders: classification
Evidence-based neurology checklist on metabolic disorders: classification: Gangliosidosis GM1 Gangliosidosis GM2 Gangliosidosis: Tay Sach’s disease GM2 Gangliosidosis: Sandhoff’s disease Fabry disease Farber disease Gaucher’s disease Krabbe disease (globoid cell leukodystrophy) Metachromatic…
Gangliosidosis
- GM1 Gangliosidosis
- GM2 Gangliosidosis: Tay Sach’s disease
- GM2 Gangliosidosis: Sandhoff’s disease
- Fabry disease
- Farber disease
- Gaucher’s disease
- Krabbe disease (globoid cell leukodystrophy)
- Metachromatic leukodystrophy (MLD)
- Niemann-Pick disease type C (NPC)
- Schindler disease
- Sialidosis
Glycogen storage diseases
Fatty acid metabolism diseases
Urea-cycle defects
Leukodystrophies
Peroxisomal disorders
Mucopolysaccharidosis
Biotin metabolism disorders
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.
- Vanderver A, Prust M, Tonduti D, et al; GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab 2015; 114:494-500.
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