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Supplement: 3rd Amino Acid Workshop

Clinical Manifestations of Inborn Errors of the Urea Cycle and Related Metabolic Disorders during Childhood¹

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860, Japan

² To whom correspondence should be addressed. E-mail: fendo{at}kumamoto-u.ac.jp.

Various disorders cause hyperammonemia during childhood. Among them are those caused by inherited defects in urea synthesis and related metabolic pathways. These disorders can be grouped into two types: disorders of the enzymes that comprise the urea cycle, and disorders of the transporters or metabolites of the amino acids related to the urea cycle. Principal clinical features of these disorders are caused by elevated levels of blood ammonium. Additional disease-specific symptoms are related to the particular metabolic defect. These specific clinical manifestations are often due to an excess or lack of specific amino acids. Treatment of urea cycle disorders and related metabolic diseases consists of nutritional restriction of proteins, administration of specific amino acids, and use of alternative pathways for discarding excess nitrogen. Although combinations of these treatments are extensively employed, the prognosis of severe cases remains unsatisfactory. Liver transplantation is one alternative for which a better prognosis is reported.

KEY WORDS: • urea cycle disorders • hyperammonemia • carbamyl phosphate synthetase • ornithine transcarbamylase

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