Article
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Clinical genetics - 1 Sept 2009
Klaus V, Vermeulen T, Minassian B, Israelian N, Engel K, Lund A M, Roebrock K, Christensen E, Häberle J
Abstract excerpt
Deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 (CPS1) causes hyperammonemia with a vast range of clinical severity from neonatal onset with early lethality to onset after age 40 with rare episodes of hyperammonemic confusion. The cause for this variability is not understood. We report two patients from one family with highly divergent clinical course, one presenting neonatally with a fatal...
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