• Neonatal Medicine
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• v.18 no.1
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• pp.143-147
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• 2011

Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and coma after 24 to 72 hours of birth. We describe a rare case of ASAuria in a female neonate who presented with severe hyperammonemia, a typical characteristic of urea cycle disorders. This patient's diagnosis was confirmed by biochemical analyses, and we found that the patient had a point mutation of the argininosuccinate lyase gene, which was homozygous for a novel 556C>T substitution. We have never seen the neonatal form of ASAuria in Korea. Therefore, this is the first report of neonatal onset ASAuria in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.62-69
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• 2016

Newborn screening of some urea cycle disorders has little benefits because of early severe symptoms before the result, low sensitivity (especially hypocitrullinemia) and poor prognosis. But in case of citrullinemia, citrin deficiency and argininosuccinic aciduria diagnosed as elevated citrulline, newborn screening is helpful for early diagnosis and treatment before the symptom. Distinction between the clinical forms of these diseases is based on clinical findings and biochemical results, however, they may not be clearcut. Treatment is different from each other, so exact diagnosis is essential. Here, the diagnostic algorithm for elevated citrulline after tandem mass screening has been proposed. Minimizing total process time from sampling to report of the results is important in Korea for diagnosis and treatment of these disorders.