Carnitine Transport Flashcards
CPT I defeciency
Cause: Carnitine Transport Protein I (in infancy)
Result: Cannot trasport NEFA into the mito for oxidation (liver primarily)
Sx: Hepatomegaly, hypoketotic, hypoglycemic (no ATP for glycolysis, gluconeogenesis, or ketogenesis) > use up all stored CHO
Tx: Avoid LCFA, high CHO & medium/short chain FA.
CPT II defeciency
Cause: Deficiency of Carnitine Protein Transporter II
Result: Cannot transport NEFAs into the mitochondria (inner membrane); CPTII deficiency will primarily affect myocytes (skeletal and cardiac)
Sx: muscle weakness, muscle cramping, cardiomyopathy and myogobinuria (muscle necrosis) due to the necrosis of muscle tissue.
Tx: high sugar, low fat diet, such that the muscle is able to be supplied on glucose alone in absense of fatty acid oxidation; Avoid fasting
Keywords: Diagnosis: cultured fibroblasts and enzyme essay
Acyl-carnitine Translocase Enzyme Deficiency
Cause: Acyl-carnitine Translocase enzyme deficiency
Result: Cannot move acyl-carnitine across inner mito membrane in exchange for carnitine
Sx:Muscle weakness, hypoglycemia, hypermmamonaemia & cardiomyopathy
Keywords: Fatal in first few years of life
Plasma mebrane (OCN-2) carnitine Transporter Deficiency
Cause: Plasma mebrane (OCN-2) carnitine Transporter Deficiency autosomal recessive gene mutation pf OCTN-2 gene
Result: Loss of Na-dependent memebrane trasporter, carnitine builds up in blood and urine. Affects skeletal and cardiac muscles and kidneys
Sx:mild-severe muscle cramping and weakness
Tx: Dietary carnitine therapy to force it int othe cells
Secondary Carnitine Deficiency
Cause:metabolic disorder such as FA Ox, mito chain defect, or side effect of a drug (iatrogenic)
Result: Inability to trasport Acyl-CoA into the mito for Oxidation
Sx: Acyl-carnitine accumulates in the B-Oxidation sites > leads to its excretion > reduced carnitine pools systematically
Tx: igh CHO loads to prevent hypoglycemia, avoid strenous PA
