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[Subacute citrullinemia--diagnosis and course up to 4th year of life]
Insights
A nine-month-old infant experienced stupor episodes due to hyperammonemia, diagnosed as citrullinemia. Early treatment with protein restriction and amino acid supplementation improved developmental delays.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Urea cycle disorders are rare genetic conditions affecting ammonia detoxification.
- Citrullinemia is a specific urea cycle disorder characterized by impaired arginine synthesis.
Observation:
- An infant presented with recurrent episodes of stupor at nine months and 1.6 years.
- Laboratory findings included hyperammonemia and elevated transaminases, prompting further investigation.
Findings:
- Amino acid chromatography confirmed citrullinemia at 1.7 years.
- Liver enzyme activity measurement validated the diagnosis.
- Protein-restricted diet and essential amino acid/arginine supplementation were initiated.
Implications:
- Early diagnosis and management of citrullinemia are crucial for preventing neurological damage.
- While initial development regressed, therapeutic interventions led to significant recovery.
- Further research into adjunctive therapies like sodium benzoate is warranted.
Abstract:
The article reports on an infant which first in age of nine months and then again in age of 1.6 years had an episode of stupor. Laboratory investigation showed hyperammonemia and high values of transaminases. The differential diagnostic check up led to the diagnosis of citrullinemia in the age of 1.7 years by amino acid chromatography. The diagnosis could be confirmed by measuring enzyme activity in the liver. Therapy is protein-low feeding and supplementation of essential amino acids and arginine. A therapeutic trial with additional sodium benzoate did not show a positive effect. The patient made a significant step backwards in development during the second episode of stupor; however in the following months the retardation could be reduced markedly.