Citrullinemia type I in newborn infant, catamnestic observation: a case report

• Inna G. Mikheeva
• Natalia V. Klimina
• Ekaterina N. Alekseeva
• Nina А. Krasnoshchekova
• Lyudmila E. Ugolkova
• Oksana B. Kurasova
• Andrey N. Korsunov
• Irina A. Belyaeva
• Andrey Yu. Kruglyakov
• Yuliya A. Kuznetsova
• Aleksandr S. Filippov
• Anna L. Karpova
• Eugenia A. Dudkina
• Ekaterina Yu. Zakharova

Abstract

Citrullinemia type I belongs to the group of hereditary diseases with a violation of the urea formation cycle. It leads to the development of hyperammonemia. Ammonium accumulates in the cerebrospinal fluid and damages glial cells, increasing osmolarity with the development of cerebral edema that subsequent disability of the child.

The main diagnostic criterion for type I citrullinemia is hyperammonemia combined with high citrulline levels. The diagnosis confirms molecular genetic testing for the presence of pathogenic variants of the ASS 1 gene. The survival rate and prognosis of the disease depend on the severity of the brain lesion and correlate with the level of ammonia in the blood, and the duration of exposure. Early diagnosis of type I citrullinemia in newborns avoids brain damage.

The child described in the article was born before the introduction of the expanded neonatal screening program. Clinical symptoms occurred at the age of 1 day 16 hours and were non-specific. Irreversible brain damage in the neonatal period was avoided, as an inherited metabolic disease was suspected. We suspected hyperammonemia that was detected. The observation is performed with the full development of the child with the observance of the diet, the medical correction of hyperammonemia, and regular medical examination by specialists.

The introduction of an extended neonatal screening program will help with the diagnostics of type I citrullinemia and initiate pathogenetic therapy in the preclinical stages.

Keywords: newborns; citrullinemia type I; hyperammonemia; urea сycle disorders; argininosuccinate synthetase deficiency

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