LTC4 synthase deficiency

Recently, total absence of cysteinyl leukotrienes in the CSF of patients with a severe neurodevelopmental syndrome led to the discovery of LTC4-synthase deficiency [6, 7]. In the meantime there is evidence of two further defects in the biosynthesis of leukotrienes representing a new group of neurometabolic disorders [8]. 

LTC4-synthase deficiency Nucleated cells 5q35 246530... 

Signs and Symptoms Table 34.1. LTC4-synthase deficiency ... 

LTC4-synthase deficiency 34.2 y-Glutamyl transpeptidase deficiency 34.3 Membrane-bound dipeptidase cystei nylg lyci nas e) deficiency... 

DNA analysis has not been performed yet. It might be in principle possible from genomic DNA (e.g. extracted from blood cells or cultured skin fibroblasts) in 31.1 (LTC4-synthase deficiency) and 34.3 (Membrane-bound dipeptidase deficiency). In 34.2 (y-Glutamyl transpeptidase deficiency) DNA analysis might be difficult since the human genome has at least seven different loco for y-glutamyl-transpeptidase. Five of them are located on chromosome 22. 

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