Gruppo di malattie correlate ad un deficit dell'enzima argininsuccinato sintetasi che determina un aumento dei livelli sierici di citrullina. Nei neonati le manifestazioni cliniche comprendono letargia, ipotonia, crisi epilettiche. Possono verificarsi anche forme più lievi. Le forme infantili e dell'età adulta possono presentarsi con episodi ricorrenti di debolezza intermittente, letargia, atassia, modificazioni del comportamento, disartria. (From Menkes, Textbook of Child Neurology, 5th ed, p49)-Medline Thesaurus
Si veda: Disturbi del ciclo dell'urea
Si veda: Disturbi del ciclo dell'urea
Si veda: Disturbi del ciclo dell'urea
Si veda: Disturbi del ciclo dell'urea
Si veda: Disturbi del ciclo dell'urea
Si veda: Disturbi del ciclo dell'urea
Boulat-O; McLaren-DG; Arriaga-EA; Chen-DDY
Separation of free amino acids in human plasma by capillary electrophoresis with laser induced fluorescence: potential for emergency diagnosis of inborn errors of metabolism
JOURNAL-OF-CHROMATOGRAPHY-B. APR 15 2001; 754 (1) : 217-228
Van-Buggenhout-GJCM; Trijbels-JMF; Wevers-R; Trommelen-JCM; Hamel-BCJ; Brunner-HG; Fryns-JP
Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype
GENETIC-COUNSELING. 2001; 12 (1) : 1-21
Kobayashi-K; Iijima-M; Yasuda-T; Sinasac-DS; Yamaguchi-N; Tsui-LC; Scherer-SW; Saheki-T
Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein
CALCIUM-THE-MOLECULAR-BASIS-OF-CALCIUM-ACTION-IN-BIOLOGY-AND-MEDICINE. 2000 : 565-587
Ohura-T; Kobayashi-K; Tazawa-Y; Nishi-I; Abukawa-D; Sakamoto-O; Iinuma-K; Saheki-T
Neonatal presentation of adult-onset type II citrullinemia
HUMAN-GENETICS. FEB 2001; 108 (2) : 87-90
Kasahara-M; Ohwada-S; Takeichi-T; Kaneko-H; Tomomasa-T; Morikawa-A; Yonemura-K; Asonuma-K; Tanaka-K; Kobayashi-K; Saheki-T; Takeyoshi-I; Morishita-Y
Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor
TRANSPLANTATION-. JAN 15 2001; 71 (1) : 157-159
Maruyama-H; Ogawa-M; Nishio-T; Kobayashi-K; Saheki-T; Sunohara-N
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels
JOURNAL-OF-THE-NEUROLOGICAL-SCIENCES. JAN 1 2001; 182 (2) : 167-170
Lee-B; Goss-J
Long-term correction of urea cycle disorders
JOURNAL-OF-PEDIATRICS. JAN 2001; 138 (1) Suppl. S : S62-S71
Ito-T; Shiraki-K; Sekoguchi-K; Yamanaka-T; Sugimoto-K; Takase-K; Tameda-Y; Nakano-T
Hepatocellular carcinoma associated with adult-type citrullinemia
DIGESTIVE-DISEASES-AND-SCIENCES. NOV 2000; 45 (11) : 2203-2206
Yasuda-T; Yamaguchi-N; Kobayashi-K; Nishi-I; Horinouchi-H; Jalil-MA; Li-MX; Ushikai-M; Iijima-M; Kondo-I; Saheki-T
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
HUMAN-GENETICS. DEC 2000; 107 (6) : 537-545
Crenn-P; Coudray-Lucas-C; Thuillier-F; Cynober-L; Messing-B
Postabsorptive plasma citrulline concentration is a marker of absorptive enterocyte mass and intestinal failure in humans
GASTROENTEROLOGY-. DEC 2000; 119 (6) : 1496-1505
Ishikawa-F; Nakamuta-M; Kato-M; Iwamoto-H; Enjoji-M; Miyata-Y; Inoguchi-T; Sakai-H; Nawata-H
Reversibility of serum NH3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia
INTERNAL-MEDICINE. NOV 2000; 39 (11) : 925-929
Ye-X; Whiteman-B; Jerebtsova-M; Batshaw-ML
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA
GENE-THERAPY. OCT 2000; 7 (20) : 1777-1782
Sander-J; Janzen-N; Sander-S; Melchiors-U; Steuerwald-U
Neonatal screening for inborn errors of metabolism using tandem mass spectrometry
MONATSSCHRIFT-KINDERHEILKUNDE. AUG 2000; 148 (8) : 771-777
Hong-KM; Shin-CH; Choi-YB; Song-WK; Lee-SD; Rhee-KI; Jang-P; Pak-GS; Kim-JK; Paik-MK; Hahn-SH
Mutation analysis of Korean patients with citrullinemia
MOLECULES-AND-CELLS. AUG 31 2000; 10 (4) : 465-468
Lee-B; Yu-H; Jahoor-F; O'-Brien-W; Beaudet-AL; Reeds-P
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
PROCEEDINGS-OF-THE-NATIONAL-ACADEMY-OF-SCIENCES-OF-THE-UNITED-STATES-OF-AMERICA. JUL 5 2000; 97 (14) : 8021-8026
Takenaka-K; Yasuda-I; Araki-H; Naito-T; Fukutomi-Y; Ohnishi-H; Yamakita-N; Hasegawa-T; Sato-H; Shimizu-Y; Matsunami-H; Moriwaki-H
Type II citrullinemia in an elderly patient treated with living related partial liver transplantation
INTERNAL-MEDICINE. JUL 2000; 39 (7) : 553-558