Neurochecklists Blog
Metabolic neurological disorders are rare and complex. Their diagnosis requires deep knowledge and long experience.
By Zephyris from w, CC BY-SA 3.0, Link
These characteristics make metabolic neurological disorders most amenable to checklists. Below are 40 metabolic neurological disorders which are all covered in Neurochecklists
Metabolic Enzyme Beta-galactosidase. NIH Image Gallery on Flikr. https://www.flickr.com/photos/nihgov/27332635804
Adrenoleukodystrophy
Adult polyglucosan body disease
Alexander disease
Autophagic vacuolar myopathy
Biotin responsive basal ganglia disease
Canavan disease
Carnitine palmitoyl transferase CPT II deficiency
Cerebrotendinous xanthomatosis (CTX)
Copper deficiency myeloneuropathy
Fabry disease
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Farber disease
Gaucher’s disease
GM1 gangliosidosis
Glycogen storage diseases
Hereditary diffuse leukoencephalopathy with spheroids (HDLS)
Krabbe disease
Lesch-Nyhan syndrome
McArdle’s disease
Metachromatic leukodystrophy (MLD)
Mucopolysaccharidosis
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Nasu Hakola disease
Niemann-Pick C (NPC)
Neuro Sweet syndrome
Neuronal ceroid lipofuschinosis type 2 (NCL2)
Ornithine transcarbamylase (OTC) deficiency
Pelizaeus Marzbacher disease (PMD)
Pompe disease
Pol3 related leukodystrophy
Porphyria
Refsum’s disease
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Rhizomelic chondrodysplasia punctata…
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