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  1. ... ganglia lesions, and patients can have status dystonicus. • Organic acidemias with neurotoxic metabolites can cause both acute basal ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  2. ... can also occur during acute crisis in other organic acidemias (e.g., maple syrup urine disease) and urea ... Treating severe hyperammonemia (if present, can occur in organic acidemias) with dialysis or ammonia scavengers; severe leucinosis in ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 2;9: ... for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 2;9: ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  4. ... devastating if unrecognized. Protein metabolism disorders include aminoaciduria, organic acidemias, and urea cycle disorders, and are associated with ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ... disorders History Exam 1st investigation Other investigations includes organic acidemias and urea cycle disorders; newborn or infant with ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  6. ... These include urea cycle disorders, glycogen storage disease, organic acidemias, primary carnitine deficiency, hereditary fructose intolerance, and fatty ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... insufficiency. • Urinary organic acids, specifically to look for organic acidemias, peroxisomal diseases, and mitochondrial diseases. • Urinary bile acids ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... acute or subacute-onset dystonia with encephalopathy are organic acidemias with toxic metabolites (where acute and chronic metabolic ... of symptoms due to intoxication etiologies, such as organic acidemias, MRI may show edematous or necrotic basal ganglia ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... ganglia lesions, and patients can have status dystonicus. Organic acidemias with neurotoxic metabolites can cause both acute basal ... Dystonia can also be seen in: methylmalonic acidemia, propionic acidemia, and acute leucine encephalopathy due to maple syrup ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  10. ... Serum ammonia may be elevated (urea cycle defect, organic acidemias). Arterial blood gas can show a metabolic acidosis ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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