Leukotriene C4 synthase deficiency

Leukotriene C4 synthase deficiency
Leukotriene C4
Classification and external resources
OMIM 246530

Leukotriene C4 synthase deficiency is an inborn error of metabolism.[1][2]

Deficiency of Leukotriene C4 synthase can lead to a reduction in Leukotriene C4.

References

  1. Mayatepek E, Flock B (November 1998). "Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome". Lancet. 352 (9139): 1514–7. doi:10.1016/S0140-6736(98)01186-6. PMID 9820300.
  2. Mayatepek E, Zelezny R, Lehmann WD, Hammond JW, Hoffmann GF (June 2000). "Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism". J. Inherit. Metab. Dis. 23 (4): 404–8. doi:10.1023/A:1005664204956. PMID 10896305.


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