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ISSN: 2167-0897

Journal of Neonatal Biology
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Research Article

A Brief Review on Citrullinemia Type1: A Urea Cycle Disorder

Venkatesh HA*
Consultant Neonatologist, Manipal Hospital, Bangalore, India
Corresponding Author : Dr. Venkatesh HA
Consultant Neonatologist, Manipal hospital, Bangalore, India
Tel: 919980135300
E-mail: [email protected]
Received February 28, 2014; Accepted May 28, 2014; Published May 30, 2014
Citation: Venkatesh HA (2014) A Brief Review on Citrullinemia Type1: A Urea Cycle Disorder. J Neonatal Biol 3:143. doi:10.4172/2167-0897.1000143
Copyright: © 2014 Venkatesh HA. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

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.

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