40 rare metabolic neurological disorders and their checklists

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

§§§

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

§§§

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

§§§

Rhizomelic chondrodysplasia punctata…