Fatty acid oxidation defect

    • Defect in Fatty Acid Oxidation'. Laboratory and Pathologic ...

      Fatty Acid Oxidation Disorders: Fatty acid oxidation disorders (FAODs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. A number of enzymes are needed to break down fats in the body (a process called fatty acid oxidation). Problems with any of these enzymes can cause a fatty acid oxidation disorder.

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    • Fatty Acid Oxidation Defects

      Fatty Acid Oxidation Defects—Denise LM Goh 75 acid oxidation defects, the encephalopathy is usually caused by accumulation of fatty acids. Hence the blood glucose level may be normal during such episodes and the presence of a normal blood glucose level does not exclude the diagnosis of a fatty acid oxidation defect. • Hepatomegaly may be ...

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    • [PDF File]CPT2 Deficiency - Fatty Acid Oxidation Disorders Research ...

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      Defect mut mtDNA 31 % 82 % 93 % 95 % onset - adult infancy newborn ... Fatty acid oxidation disorders, 2002) Carnitine cycle Long chain free fatty acids are “activated” to acyl-CoA esters in cytosol and are imported to mitochondria via carnitine cycle Medium- and shortchain fatty

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    • [PDF File]Fatty Acid Oxidation Disorders - Newborn Screening

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      Definition Fatty acid oxidation disorders are a group of inherited metabolic conditions that lead to an accumulation of fatty acids, and a decrease in cell energy metabolism. Each fatty acid oxidation disorder is associated with a specific enzyme defect in the fatty acid metabolic pathway and affects utilization of dietary and stored fat.

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    • [PDF File]Fatty Acid Oxidation Disorders Galactosemia

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      Carnitine transporter defect (OCTN2), Long chain fatty acid transport/binding defect 2. Disorders of the entry of long-chain fatty acids into the mitochondria CPT1, CACT, CPT2 3. β oxidation defects of long chain fatty acids - mitochondrial membrane bound enzymes VLCAD, MTP/LCHAD 4.

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    • [PDF File]MCAD and Other Fatty Acid Oxidation Disorders

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      Screening for Fatty Acid Oxidation Disorders • The fatty acids from the infant’s blood are of different carbon chain lengths and are called “acyl” groups. • They are covalently bound to the endogenous amino acid, carnitine • The acylcarnitines are abbreviated with a “C” for carbon, followed by the number of carbons in their chain

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    • [PDF File]A practical overview of fatty acid oxidation disorders

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      Abstract: Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism due to disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The presentation of a FAOD will depend upon the specific disorder, but common elements may be seen, and ultimately require a similar treatment.

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    • [PDF File]Fatty acid oxidation disorders

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      fatty acylcarnitine to its original fatty acyl-coenzyme A form that can enter the pathways to generate energy (fatty acid oxidation). Signs and symptoms Mild CPT2 deficiency is the most common fatty acid oxidation defect. Patients usually present in adolescence or early adulthood with brownish red urine (myoglobinuria) and muscle weakness

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    • [PDF File]Fatty Acid Oxidation Defects

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      fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly af- fecting heart, skeletal muscle, liver, and kidney. Oxi- dation of palmitate was 38-51% of controls. Comple- mentation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all

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