新生児生物学ジャーナル

概要

A Brief Review on Citrullinemia Type1: A Urea Cycle Disorder

Venkatesh HA

Citrullinemia is an inherited urea cycle disorder with autosomal recessive inheritance. This condition was first described in the year 1962. Affected individuals will have marked elevation of citrulline in blood. It is due to defective enzyme arginosuccinate synthetase in the urea cycle path way. Affected infants show very high serum ammonia (1000-3000 μmol/L against normal value of <200 μmol/L. There are two types of Citrullinemia. Citrullinemia Type1 and Type 2, Type 1 Citrullinemia also called as classic Citrullinemia usually becomes evident in the first few days of life. Type 1 is the most common disorder affecting about 1 in 57,0000 people worldwide. Usually, clinical features appear between 24 and 72 hours of age, once the feed is established. Proper diagnosis, counseling the parents, prompt management including nutrition and immunization might save many lives. Some of the infants with severe forms of citrullinemia might require liver transplantation later.