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  2. Systemic primary carnitine deficiency - Wikipedia

    en.wikipedia.org/wiki/Systemic_primary_carnitine...

    The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]

  3. Carnitine palmitoyltransferase II deficiency - Wikipedia

    en.wikipedia.org/wiki/Carnitine_palmitoyl...

    Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...

  4. Fatty-acid metabolism disorder - Wikipedia

    en.wikipedia.org/wiki/Fatty-acid_metabolism_disorder

    Carnitine-acylcarnitine translocase deficiency (CACT) Carnitine Palmitoyl Transferase I ... some adults and children can sleep for 8–10 hours through the night ...

  5. Carnitine palmitoyltransferase I deficiency - Wikipedia

    en.wikipedia.org/wiki/Carnitine_palmitoyl...

    Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I , that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.

  6. List of causes of hypoglycemia - Wikipedia

    en.wikipedia.org/wiki/List_of_causes_of_hypoglycemia

    2-methylbutyryl-coenzyme A dehydrogenase deficiency, 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency, 3-Methylcrotonyl-CoA carboxylase deficiency, ACAD9 deficiency, Alpers' syndrome, Carbohydrate-deficient glycoprotein syndrome type 1b, Carnitine palmitoyltransferase I deficiency, Carnitine-acylcarnitine translocase deficiency, Cleft lip ...

  7. 3-Methylcrotonyl-CoA carboxylase deficiency - Wikipedia

    en.wikipedia.org/wiki/3-Methylcrotonyl-CoA...

    Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]

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