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Type II citrullinemia associated with neutropenia
Y Kamiya1, T Horikoshi, H Takagi
1First Department of Internal Medicine, Gunma University School of Medicine, Maebashi.
Internal Medicine (Tokyo, Japan)
|July 1, 1995
Summary
Type II citrullinemia, a rare metabolic disorder, can cause hyperammonemia and delirium. This case highlights a potential link between this urea cycle disorder and neutropenia due to reduced granulocyte colony-stimulating factor.
Area of Science:
- Biochemistry
- Genetics
- Hematology
Background:
- Type II citrullinemia is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate synthetase.
- It leads to hyperammonemia and can present with neurological symptoms such as delirium.
Observation:
- A 37-year-old Japanese male presented with delirium and elevated ammonia levels.
- Amino acid analysis revealed elevated citrulline, confirming type II citrullinemia.
- The patient also exhibited neutropenia (low neutrophil count) and low serum granulocyte colony-stimulating factor (G-CSF).
Findings:
- Hepatic argininosuccinate synthetase activity was markedly reduced.
- The co-occurrence of neutropenia and low G-CSF suggests a potential connection to the metabolic defect.
Implications:
- This case suggests that urea cycle disorders like type II citrullinemia may impact hematopoiesis.
- Reduced G-CSF production or impaired feedback regulation could underlie the observed neutropenia.
- Further research is warranted to explore the relationship between urea cycle disorders and granulocyte colony-stimulating factor in patients.