25 metabolic disorders and their essential neurology checklists

This is just a short post to highlight some practical metabolic disorders checklists that you may wish to explore.


Gaucher’s disease

Tay-Sachs disease

Neimann Pick C disease (NPC)

Metachromatic leukodystrophy (MLD)

Cerebrotendinous xanthomatosis (CTX)


Krabbe disease

 Fabry disease

Alexander disease

Adrenoleukodystrophy (ALD)

Refsum’s disease


OTC deficiency


Lesch-Nyhan syndrome




Adult polyglucosan body disease

GM1 gangliosidosis

Canavan disease

Tangier disease

Vanishing white matter disease (VWM)



Sialic acid storage diseases

Nasu Hakola disease

Rhizomelic chondrodysplasia punctata (RCDP)

Zellweger syndrome


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