Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

Journal of Neurology, Neurosurgery, and Psychiatry
Shu-ichi IkedaT Saheki

Abstract

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. Ten patients with this disease were evaluated. Seven of them underwent liver transplants using a graft obtained from a healthy family member. There 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 plasm...Continue Reading

References

Jan 1, 1992·European Journal of Pediatrics·A P Mowat
Mar 1, 1992·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·S TodoW A Fenton
Sep 1, 1989·The Journal of Pediatrics·C LargillièreJ P Farriaux
Feb 5, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·T SahekiT Katsunuma
May 1, 1997·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K KobayashiT Saheki
Mar 6, 1998·Annals of Surgery·S KawasakiS Miyagawa

❮ Previous
Next ❯

Citations

May 6, 2011·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Maria Clara ToniniM Mattioli
Apr 17, 2008·Journal of Inherited Metabolic Disease·T SahekiA Inui
Dec 6, 2011·International Journal of Obstetric Anesthesia·U ItukA S Habib
Mar 31, 2004·Molecular Genetics and Metabolism·James V Leonard, Peter J McKiernan
Jan 22, 2003·Brain & Development·Aki KuriharaYoichi Kohno
Jan 20, 2007·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·David C AlsopSharon K Inouye
Jun 8, 2011·Journal of Transplantation·Hui-Hui TanChee-Kiat Tan
Nov 26, 2009·Rinshō shinkeigaku = Clinical neurology·Sayaka FunabeNobutaka Hattori
Feb 1, 2011·Clinical Journal of Gastroenterology·Akira UedaToshiro Sugiyama
Dec 4, 2014·Molecular Genetics and Metabolism·Sirisak Chanprasert, Fernando Scaglia
Oct 16, 2007·Chest·Alison S Clay, Bryan E Hainline
Mar 18, 2010·Molecular Genetics and Metabolism·Takeyori SahekiKeiko Kobayashi
Oct 16, 2007·Molecular Genetics and Metabolism·Joshua L DeignanWayne W Grody
Jul 16, 2008·Journal of Hepatology·Michiharu KomatsuKeiko Kobayashi
Apr 27, 2013·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Ko-Ichi TazawaShu-Ichi Ikeda
May 25, 2013·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Takayuki KogureTooru Shimosegawa
Feb 7, 2006·Journal of Hepatology·Mitsuaki MoriyamaTakeyori Saheki
Sep 27, 2006·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Ching-Wei TsaiMing-Shiang Wu
Jul 1, 2003·Expert Review of Neurotherapeutics·Shu-Ichi IkedaYasuhiko Hashikura
Mar 30, 2004·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Masahide YazakiShu-ichi Ikeda
Oct 21, 2005·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Daisuke MoriokaKoichi Tanaka
Sep 14, 2017·Journal of Inherited Metabolic Disease·Adrien BigotFrançois Maillot
Jan 24, 2007·Physiological Reviews·Jorgina SatrústeguiAraceli Del Arco
Jun 28, 2016·Experimental and Therapeutic Medicine·Lujia TangShuming Pan
Aug 14, 2012·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Masahide YazakiShu-Ichi Ikeda
Jul 1, 2019·Clinical Journal of Gastroenterology·Toshihiko KakiuchiMuneaki Martsuo
Jun 27, 2007·The Journal of Biological Chemistry·Takeyori SahekiTsuyoshi Kobayashi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.