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May 22, 2021March 17, 2022

40 rare metabolic neurological disorders and their checklists

Metabolic neurological disorders are rare and complex. Their diagnosis requires deep knowledge and long experience. 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

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Adrenoleukodystrophy

Adult polyglucosan body disease

Alexander disease

Autophagic vacuolar myopathy

Biotin responsive basal ganglia disease

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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)

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Krabbe disease

Lesch-Nyhan syndrome

McArdle’s disease

Metachromatic leukodystrophy (MLD)

Mucopolysaccharidosis

By Zephyris from w, CC BY-SA 3.0, Link

Nasu Hakola disease

Niemann-Pick C (NPC)

Neuro Sweet syndrome

Neuronal ceroid lipofuschinosis type 2 (NCL2)

Ornithine transcarbamylase (OTC) deficiency

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Pelizaeus Marzbacher disease (PMD)

Pompe disease

Pol3 related leukodystrophy

Refsum’s disease

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Rhizomelic chondrodysplasia punctata (RCPD)

Sandhoff disease

Sepiapterin reductase deficiency

Sialic acid storage diseases

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Sjogren Larsson syndrome

Tangier disease

Tarui disease

Tay Sachs disease

Zellweger syndrome

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Public Domain, Link

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To explore these and many other comprehensive neurology checklists…

Go online at Neurochecklists.com

Or get the book, 700 Essential Neurology Checklists

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Posted in neurology checklistsBy Ibrahim Imam1 Comment

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Viral encephalitis, ABN/BIA, 2012
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REVIEW ARTICLES

Arteriovenous malformations (AVMs), Choi and Mohr, 2005
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Cerebral microbleeds, Cordonnier et al, 2007
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Posterior Reversible Encephalopathy Syndrome (PRES), Roth and Ferbert, 2011
Postural Tachycardia Syndrome (POTS), Carew et al, 2009
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REM sleep Behaviour Disorder (RBD), Boeve, 2010
Reversible Cerebral Vasoconstriction Syndrome (RCVS), Sattar et al, 2010
Stroke in the young, Larrue et al, 2011
Sudden Unexpected Death in Epilepsy (SUDEP), So et al, 2009
Syncope, Weiling et al, 2009
Thunderclap headache (TCH), Ducros and Bousser, 2013
Transient Epileptic Amnesia (TEA), Zeman and Butler, 2010
Venous Sinus Thrombosis (VST), Piazza, 2012
Viral encephalitis, Solomon et al, 2007

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