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a Third Department of
Medicine, Shinshu University School of Medicine, Matsumoto 390-8621,
Japan, b First Department of Surgery, Shinshu University
School of Medicine, Matsumoto 390-8621, Japan, c First
Department of Internal Medicine, Iwate Medical University, Morioka
020-8505, Japan, d Department
of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima
890-8520, Japan
Correspondence to: Dr S Ikeda ikedasi{at}hsp.md.shinshu-u.ac.jp
Received 19 April 2001 and in revised form 26 June 2001;
Accepted 6 July 2001
OBJECTIVE
Adult onset
type II citrullinemia is an inherited disorder of amino acid metabolism
caused by a deficiency of liver specific argininosuccinate synthetase
activity. Most of the patients with this disease were reported in Japan
and therefore, this disease has not been well recognised outside this
country. The detailed clinical pictures of the patients with type II
citrullinaemia are reported and their outcomes after liver
transplantation referred to.
METHODSTen patients
with this disease were evaluated. Seven of them underwent liver
transplants using a graft obtained from a healthy family member.
RESULTSThere were six
men and four women; the age of onset of encephalopathy ranged from 17 to 51 years. The initial symptom in nine patients was sudden onset
disturbance of consciousness, and one patient had long been regarded as
having a chronic progressive psychotic illness. High concentrations of
plasma citrulline and ammonia were commonly seen on admission. Although
brain CT or MRI lacked any consistent findings, the EEG was abnormal in
all patients, showing diffuse slow waves. Additionally, in five
patients chronic pancreatitis preceded the onset of encephalopathy.
After liver transplantation the metabolic abnormalities, including
abnormal plasma concentrations of citrulline and ammonia, were
immediately corrected and all neuropsychic symptoms soon disappeared,
except for impaired cognitive function in one patient. Six out of these seven patients returned to their previous social lives, including work.
CONCLUSIONSThe
clinical concept of adult onset type II citrullinaemia coincides well
with the range of hepatic encephalopathy, and liver transplantation is
a very promising therapeutic approach.
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