Metabolic disorders: classification
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Metabolic disorders: classification. GM1 Gangliosidosis, GM2 Gangliosidosis: Tay Sach’s disease. Fully referenced neurology checklist.
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
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Fatty acid metabolism diseases
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Urea-cycle defects
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Leukodystrophies
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Peroxisomal disorders
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Mucopolysaccharidosis
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Biotin metabolism disorders
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Glucose transporter deficiency disorders
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Purine metabolism disorders
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Pyruvate metabolism disorders
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Vitamin metabolism disorders
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Miscellaneous inherited metabolic disorders
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Other metabolic disorders
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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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