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Laboratory evaluation of infants with isolated elevation of propionylcarnitine (C3) on newborn screening

Laboratory evaluation of infants with isolated elevation of propionylcarnitine (C3) on newborn screening
Cr: creatine; CBC: complete blood count; UA: urinalysis; SUCLA2: succinate-CoA ligase ADP-forming beta subunit; Cbl: cobalamin; TCN: transcobalamin; TCR: transcobalamin receptor.
* Ammonia should be drawn free flowing (without tourniquet), placed immediately on ice, and processed STAT to avoid false-positive elevation.
¶ Plasma acylcarnitine profile may show elevated C4-dicarboxylic acylcarnitine (C4DC); a marker for both methylmalonylcarnitine and succinylcarnitine.
Δ Other findings in propionic acidemia include presence of methylcitrate, tiglylglycine, propionylglycine, and lactic acid on urine organic acids; elevated glycine on plasma amino acids. Usually, hyperammonemia is more severe in propionic acidemia compared with methylmalonic acidemia.
Reference:
  1. Manoli I, Sloan JL, Venditti CP. Isolated methylmalonic acidemia. In: Adam MP, Ardinger HH, Pagon RA, et al (Eds), GeneReviews (Internet), Seattle, University of Washington, 2016.
Adapted from: C3 elevated isolated. American College of Medical Genetics 2009. Available at: https://www.acmg.net/PDFLibrary/C3-Algorithm.pdf (Accessed on July 2, 2019).
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