Metabolic, Storage, and Mitochondrial Diseases Affecting the CNS

NeuroLearn NeuroHelp @ General Mitochondrial Lysosomal Peroxisomal Amino Acid Polysaccharide

General: Head

• Mitochondrial disease, clinicopathologic classification
• Mitochondrial disease, genetic classification
• Lysosomal storage disorders, classification
• Peroxisomal disorders, classification
• Amino acid and organic acid metabolic disorders, classification

Individual Entities:

    Mitochondrial disorders Head

• Clinicopathologic classification
• Genetic classification
• Leigh's disease (subacute necrotizing encephalomyelopathy)
• Mitochondrial myopathy, encephalopathy, lactic-acidosis, and stroke like episodes (MELAS)

    Lysosomal storage disorders Head

• Classification

• Farber disease (ceramidosis or lipogranulomatosis)

• Fabry disease

• Gangliosidoses

• Gaucher disease

• Globoid cell leukodystrophy (Krabbe's disease)

• Glycogenosis type II and Pompe’s disease

• Metachromatic leukodystrophy (Sulfatidosis)

• Mucosulfatidosis

• Mucopolysaccharidoses

• Nieman-Pick disease

    Peroxisomal disorders Head

• Classification

• Hyperpipecolic acidaemia

• Infantile Refsum’s disease

• Neonatal adrenoleukodystrophy

• Refsum's disease

• Rhizomelic chondrodysplasia punctata (classical type)

• X-linked adrenoleukodystrophy (X-ALD)

• Zellweger syndrome

    Amino acid and organic acid metabolic disorders Head

• Clssification
• Canavan disease
• Hartnup disease

    Polysaccharide (carbohydrate) storage disorders  Head

• Glycogenosis type II and Pompe’s disease
• Lafora body disease

For Comment: KarMing-Fung@ouhsc.edu