Adult-onset type II citrullinemia associated with idopathic hypertriglyceridemia as a preceding feature [2]

Journal of Gastroenterology and Hepatology (Australia)

Volumn 21, Issue 10, 2006, Pages 1634-1635

  Terada, Ryo ^a   Yamamoto, Kazuhide ^b   Kobayashi, Keiko ^c   Sakaguchi, Kohsaku ^a   Iwasaki, Yoshiaki ^a   Saheki, Takeyori ^c   Shiratori, Yasushi ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b OKAYAMA SAISEIKAI GENERAL HOSPITAL   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE; BEZAFIBRATE;

ACUTE PANCREATITIS; ADULT; ADULT ONSET TYPE 2 CITRULLINEMIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CITRULLINEMIA; CLINICAL FEATURE; FATTY LIVER; HUMAN; HYPERTRIGLYCERIDEMIA; LETTER; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FUNCTION TEST; LIVER TRANSPLANTATION; MALE; PRIORITY JOURNAL;

EID: 33747609336     PISSN: 08159319     EISSN: 14401746     Source Type: Journal    
DOI: 10.1111/j.1440-1746.2006.04339.x     Document Type: Letter

References (5)

1. Kobayashi K, Sinasac DS, Iijima M et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 1999; 22: 159-63.
2. Kobayashi K, Horiuchi M, Saheki T. Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia. Hepatology 1997; 25: 1160-5.
3. Yamaguchi N, Kobayashi K, Yasuda T et al. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum. Mutat. 2002; 19: 122-30.
4. Saheki T, Kobayashi K, Iijima M et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol. Genet. Metab. 2004; 81 (Suppl. 1): S20-6.
5. Sanyal AJ, Campbell-Sargent C, Mirshahi F et al. Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology 2001; 120: 1183-92.