Author/Authors :
Haberle Johannes نويسنده , Sayarifard Fatemeh نويسنده Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. Sayarifard Fatemeh , Rostami Parastoo نويسنده Department of Pediatric Endocrinology, Childrens Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Rostami Parastoo , Setoudeh Arya نويسنده Department of Pediatrics, Division of Pediatric Endocrinology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Setoudeh Arya , Zschocke Johannes نويسنده Division of Human Genetics, Medical University Innsbruck,
Innsbruck, Austria
Abstract :
Introduction The argininosuccinate lyase (ASL) gene encodes
argininosuccinate lyase (ASL), which is one of the six enzymes of the
urea cycle that detoxifies blood ammonia. Argininosuccinate lyase
deficiency impairs the function of the urea cycle and causes
hyperammonemia, neurodevelopmental delay and hepatopathy. Case
Presentation Here we report two patients with argininosuccinate
aciduria. They were treated with peritoneal dialysis and scavenger
drugs. Molecular genetic testing showed two novel homozygous mutations,
c.146T > G (p.Leu49Arg) in exon 3 and c.1144-1G > C in
intron 15 of the ASL gene. Conclusions This report intends to underline
the importance of pediatricians being aware of the existence of a
metabolic disease in any ill neonate. Diagnosis of urea cycle disorders
is particularly important because of availability of effective treatment
options.
