Citrullinaemia with Rapidly Fatal Neonatal Course

Citrullinemia, Report of a Case, with Studies on Antenatal Diagnosis

“…In agreement with this hypothesis is the observation that the activity of arginase, localized behind the enzymic block in the urea cycle, is lower than that of the control subjects. The enzyme activities observed in the present case are higher than those reported by Van der Zee et al [24]. This difference may be due to the fact that material for enzyme studies of the latter case were stored at -70°, whereas that of the present case was used immediately.…”

“…In three of these the initial development of the affected children was normal, the onset of symptoms taking place after some months of apparently normal growth and development. This course of the disease is in sharp contrast to that described by Van der Zee et al [24], who found a rapidly increasing drowsiness, respiratory insufficiency, and convulsions a few days after birth, which resulted ultimately in an early death of their patient. A different case seems to be that described by Scott-Emuakpor et al [21], in view of the alternate metabolic pathway for the disposal of ammonia.…”

“…The concentration of this amino acid in plasma of normal infants is about 20 ^M. AS in the case described by Van der Zee et al [24], increased levels of lysine, histidine, glutamine, proline, glycine, alanine, and methionine were also observed.…”

“…We report here a seventh case of citrullinemia, namely of the type described by Van der Zee et al [24]. In addition, the possibility for antenatal diagnosis was explored.…”

Citrullinemia: Quantitative deficiency of argininosuccinate synthetase in the liver.

“…Most of the cases resulted in a rapid fatal course. The results of ASS assay showed extremely reduced enzyme acivities in the liver tissues and cultured skin fibroblasts (McMurry et al 1962 ;Zee et al 1971). In some cases, abnormal Km values of enzyme for citrulline and aspartate were described (Saeki et al 1981;.…”