A 36-year-old man was admitted to our hospital with abdominal pain, nausea, weight loss and malaise. He had worked as a painter for 2 months. Laboratory testing showed anemia, liver dysfunction and elevated blood lead concentration. After administration of oral D-penicillamine, his urinary lead excretion increased significantly. His abdominal pain resolved after 5 days. His clinical course was otherwise uneventful. His anemia and liver dysfunction resolved after 2 months. His blood lead concentration remained normal for a year after discharge without recurrence of plumbism. Physicians should be aware of the clinical features of plumbism because early diagnosis is difficult.
Arginase defi ciency is a rare urea cycle disorder and generally presents in children of preschool age with developmental delay and spasticity. Unlikely other urea cycle defects, patients rarely present hyperammonemic symptoms, especially in the early infantile period. A one-month-old male infant was admitted to our hospital because of abnormal respiratory condition with persistent hiccups and lethargy. The initial laboratory studies showed respiratory alkalosis and remarkable hyperammonemia [ammonia, 1970 μmol/L (25 times normal)]. Amino acid chromatography showed a markedly elevated plasma arginine level (1131 μmol/L; 10 times normal), and erythrocyte arginase activity was undetectable. Despite prompt diagnosis and normalization of ammonia and arginine levels by peritoneal dialysis, the patient developed neurodevelopmental impairment during the one-year follow-up period. In summary, this is a rare case of arginase defi ciency in terms of early infantile onset and presentation of the severe form of hyperammonemia. Pathologic hiccups could be one of the clinical clues to the presence of hyperammonemia even in young infants with arginase defi ciency.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.