[Inborn errors of metabolism in adult neurology].

[adrenomyeloneuropathy]

Inborn errors of metabolism (IEM ) are caused by mutations in genes coding for enzymes and other proteins involved in cell metabolism . Many IEM can be treated effectively . Although IEM have usually been considered pediatric diseases , they can present at any age , mostly with neurological and psychiatric symptoms , and therefore constitute an integral subspeciality of neurology . However , although they are increasingly being recognized , IEM remain rare , and the care for patients should be optimized in specialized reference centers . Since the number of different diseases is very large , the diagnostic approach needs to be rigorous , starting at the clinics and calling upon the additional help of neuroradiology , biochemistry and molecular biology . In practice , it is important for the neurologist to recognize : (1 ) when to start suspecting an IEM ; and (2 ) how to correlate a given clinical presentation with one of the five major groups of diseases affecting the nervous system . These five groups may be classified as : (a ) energy metabolism disorders such as respiratory chain disorders , pyruvate dehydrogenase deficiency , GLUT 1 deficiency , fatty-acid Î²-oxidation defects , and disorders involving key cofactors such as electron transfer flavoprotein , thiamine , biotin , riboflavin , vitamin E and coenzyme Q 10 ; (b ) intoxication syndromes such as porphyrias , urea-cycle defects , homocystinurias , organic acidurias and amino acidopathies ; (c ) lipid-storage disorders such as lysosomal storage disorders (Krabbe disease , metachromatic leukodystrophy , Niemann - Pick disease type C , Fabry disease and Gaucher 's disease ), peroxisomal disorders (adrenomyeloneuropathy , Refsum disease , disorders of pristanic acid metabolism , peroxisome biogenesis disorders ), Tangier disease and cerebrotendinous xanthomatosis ; (d ) metal-storage diseases such as iron , copper and manganese metabolic disorders ; and (e ) neurotransmitter metabolism defects , including defects of serotonin , dopamine and glycine metabolism .

Diseases
Validation

Diseases presenting "glut1 deficiency" symptom

adrenomyeloneuropathy

krabbe disease

pyruvate dehydrogenase deficiency

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