J Genet Med.  1997 Sep;1(1):5-10.

Successful treatment of a child with citrullinemia

• Lee KH
• Park MS
• Hahn SH

Abstract

The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or the urea cycle. 1) The urea cycle consists of five enzymes necessary for the synthesis of carbamyl phosphate, citrulline, argininosuccinate, arginine, and urea: carbamyl phosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccinate synthetase (AS), argininosuccinate lyase (AL), and arginase (ARG). 2) Congenital deficiencies of the enzymes involved in the urea cycle are diseases that are almost fatal without treatment, showing symptoms like vomiting, lethargy, dyspnea, and coma due to hyperammonemia coming from the accumulation of ammonia and metabolic precursors resulting from the deficiency of one of these enzymes. 3) Among these, the disease manifested by the congenital deficiency of argininosuccinate synthetase (AS) which is associated with the formation of argininosuccinate in citrulline is called argininosuccinate synthetase deficiency or citrullinemia. There have been two reports on this so far in Korea; one in July 1987 by Kim et al. 4) and the other by Park et al. 5) in 1995. We are to report a case of successful treatment of a child with citrullinemia who was transferred to our hospital due to dyspnea, lethargy, feeding difficulties, convulsions and cyanosis together with some document studies related to this case.

Keyword

Citrullinemia; Urea cycle disorder

MeSH Terms

Amino Acids
Ammonia
Arginase
Arginine
Argininosuccinate Lyase
Argininosuccinate Synthase
Carbamyl Phosphate
Child*
Citrulline
Citrullinemia*
Coma
Cyanosis
Dyspnea
Humans
Hyperammonemia
Korea
Lethargy
Ligases
Ornithine Carbamoyltransferase
Seizures
Urea
Urea Cycle Disorders, Inborn
Vomiting
Amino Acids
Ammonia
Arginase
Arginine
Argininosuccinate Lyase
Argininosuccinate Synthase
Carbamyl Phosphate
Citrulline
Ligases
Ornithine Carbamoyltransferase
Urea