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January 19, 2023January 19, 2023

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

Lesch-Nyhan syndrome

Mucopolysaccharidoses

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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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Posted in GENERAL, neurology checklistsTagged Adrenoleukodystrophy, Adult polyglucosan body disease, ALD, alexander disease, Canavan disease, cerebrotendinous xanthomatosis, CTX, Fabry disease, Gaucher's disease, GM1 gangliosidosis, Krabbe disease, Lesch-Nyhan syndrome, metachromatic leukodystrophy, MLD, mucopolysaccharidoses, nasu hakola disease, Neimann Pick C disease, NPC, OTC deficiency, ovarioleukodystrophy, porphyria, RCDP, refsum’s disease, rhizomelic chondrodysplasia punctata, sialic acid storage diseases, sialidosis, tangier disease, Tay-Sachs disease, vanishing white matter disease, VWM, zellweger syndromeBy Ibrahim Imam1 Comment

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