An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia

被引：8

作者：

Osafune, K ^{[1
]}

Ichikawa, K ^{[1
]}

Yasui, T ^{[1
]}

Sekikawa, A ^{[1
]}

Takeoka, H ^{[1
]}

Kanatsu, K ^{[1
]}

Kohigashi, K ^{[1
]}

Koshiyama, H ^{[1
]}

机构：

[1] Hyogo Kenritsu Amagasaki Hosp, Dept Neurol, Amagasaki, Hyogo 6600828, Japan

来源：

INTERNAL MEDICINE | 1999年 / 38卷 / 07期

关键词：

urea cycle disorder; hyperammonemia; hepatic encephalopathy; alcohol; brain magnetic resonance imaging (MRI);

D O I：

10.2169/internalmedicine.38.590

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 52-year-old heavy drinker presented with repeated episodes of disturbance of consciousness and an increase in serum ammonia level, triggered by excessive alcohol intake. He was diagnosed as having adult-onset citrullinemia with deficiency of hepatic argininosuccinate synthetase (ASS) activity. Cranial magnetic resonance imaging (MRI) showed high-intensity lesions in the central pens and the bilateral middle cerebellar peduncles on T2-weighted images, Although almost all cases of adult-onset citrullinemia have been reported to be enzymologically classified as type II, the serum amino acid pattern and serum level of human pancreatic secretory trypsin inhibitor (hPSTI) were atypical for type II in the present case.

引用

页码：590 / 596

页数：7

共 26 条

[11] Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet [J].

Ben-Ari, Ziv ;

Dalal, Adam ;

Morry, Ady ;

Pitlik, Silvio ;

Zinger, Pierre ;

Cohen, Jonathan ;

Fattal, Ittai ;

Galili-Mosberg, Ronit ;

Tessler, Debora ;

Baruch, Ruth Gershoni ;

Nuoffer, Jean-Marc ;

Largiader, Carlo R. ;

Mandel, Hanna .

JOURNAL OF HEPATOLOGY, 2010, 52 (02) :292-295

[12] A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine [J].

Yazaki, Masahide ;

Kinoshita, Michiaki ;

Ogawa, Shinji ;

Fujimi, Satoshi ;

Matsushima, Akira ;

Hineno, Akiyo ;

Tazawa, Ko-ichi ;

Fukushima, Kazuhiro ;

Kimura, Ryo ;

Yanagida, Makoto ;

Matsunaga, Hidenori ;

Saheki, Takeyori ;

Ikeda, Shu-ichi .

CLINICAL NEUROLOGY AND NEUROSURGERY, 2013, 115 (08) :1542-1545

[13] Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles [J].

Tanaka, T ;

Nagao, M ;

Tsutsumi, H .

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2002, 198 (02) :89-97

[14] Psychiatric adult-onset of urea cycle disorders: A case-series [J].

Bigot, Adrien ;

Brunault, Paul ;

Lavigne, Christian ;

Feillet, Francois ;

Odent, Sylvie ;

Kaphan, Elsa ;

Thauvin, Christel ;

Leguy, Vanessa ;

Broue, Pierre ;

Tchan, Michel C. ;

Maillot, Francois .

MOLECULAR GENETICS AND METABOLISM REPORTS, 2017, 12 :103-109

[15] Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantation [J].

Tazawa, Ko-ichi ;

Yazaki, Masahide ;

Fukushima, Kazuhiro ;

Ogata, Satoshi ;

Makuuchi, Masatoshi ;

Morita, Katsuo ;

Hiraishi, Hideyuki ;

Iwasaki, Yoshimi ;

Kita, Junji ;

Kubota, Keiichi ;

Ikeda, Shu-ichi .

HEPATOLOGY RESEARCH, 2013, 43 (05) :563-568

[16] Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet [J].

Kogure, Takayuki ;

Kondo, Yasuteru ;

Kakazu, Eiji ;

Ninomiya, Masashi ;

Kimura, Osamu ;

Kobayashi, Nao ;

Shimosegawa, Tooru .

HEPATOLOGY RESEARCH, 2014, 44 (06) :707-712

[17] Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation [J].

Bates, Timothy R. ;

Lewis, Barry D. ;

Burnett, John R. ;

So, Kenji ;

Mitchell, Andrew ;

Delriviere, Luc ;

Jeffrey, Gary P. .

LIVER TRANSPLANTATION, 2011, 17 (12) :1481-1484

[18] A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age [J].

Ono, Hiroaki ;

Suto, Tetsushi ;

Kinoshita, Yoshihisa ;

Sakano, Takashi ;

Furue, Takeki ;

Ohta, Toshiyuki .

BRAIN & DEVELOPMENT, 2009, 31 (10) :779-781

[19] Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: A case report [J].

Alameri M. ;

Shakra M. ;

Alsaadi T. .

Journal of Medical Case Reports, 9 (1)

[20] Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature [J].

Cavicchi, Catia ;

Chilleri, Chiara ;

Fioravanti, Antonella ;

Ferri, Lorenzo ;

Ripandelli, Francesco ;

Costa, Cinzia ;

Calabresi, Paolo ;

Prontera, Paolo ;

Pochiero, Francesca ;

Pasquini, Elisabetta ;

Funghini, Silvia ;

la Marca, Giancarlo ;

Donati, Maria Alice ;

Morrone, Amelia .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2018, 19 (02)

← 1 2 3 →