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)

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Krabbe disease

 Fabry disease

Alexander disease

Adrenoleukodystrophy (ALD)

Refsum’s disease

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OTC deficiency

Porphyria

Lesch-Nyhan syndrome

Mucopolysaccharidoses

Sialidosis

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Adult polyglucosan body disease

GM1 gangliosidosis

Canavan disease

Tangier disease

Vanishing white matter disease (VWM)

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Ovarioleukodystrophy

Sialic acid storage diseases

Nasu Hakola disease

Rhizomelic chondrodysplasia punctata (RCDP)

Zellweger syndrome

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