Publikace na 2. lékařská fakulta |
1994
Abstrakt
Adenylosuccinase deficiency (McKusick 10305) is a recently described genetic defect of purine nucleotide metabolism. Adenylosuccinase (adenylosuccinate lyase, ASase, E.C.4.3.2.2.) catalyses the eighth step in the ten-step de novo purine synthesis and the second step in the formation of AMP from IMP.
Affected children are normal at birth, but psychomotor retardation, the principal symptom of this defect becomes evident in the first years of life. The other, inconstant, clinical features are epilepsy, involuntary movement, agitation, hypotonia, autistic features, muscle wasting and growth failure.