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Its so tough
PCD is characterized by low plasma carnitine levels, reduced intracellular carnitine, and increased urinary loss.[5] Carnitine is transported intracellularly via OCTN2, which is expressed predominantly in skeletal and cardiac muscles, and kidneys.[3] Decreased OCTN2 on the plasma membrane results in a reduced intracellular update of carnitine.[5] In kidneys, this results in reduced reabsorption of carnitine, and patients with PCD may lose up to 95% of the filtered carnitine in the urine.[6] The parents of a child with PCD, who are heterozygous carriers, may lose twice or thrice the levels of normal urinary excretion.[6] The plasma concentration of acyl-carnitine esters is also low in PCD.[5] Epidemiology The incidence of Primary carnitine deficiency is different based on ethnicity
You can expect a continued new stream of products to address that need, CEO Mark Schneider told journalists in February
Metabolic alteration and epigenetic regulation and developmental origin further drive glial heterogeneity and aging trajectories
J Pediatr 148:23-29, 2006
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