Citrin deficiency

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Prevalence (%) of clinical parameters based on data from 1 references describing 19 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypercitrullinemia circulatory 100 % 18620775 2015-12-21
Increased blood transaminase circulatory 89 % 18620775 2015-12-21
Steatosis digestive 89 % 18620775 2015-12-21
Hypoalbuminemia circulatory 83 % 18620775 2015-12-21
Increased blood gammaglutamyltransferase circulatory 79 % 18620775 2015-12-21
Hyperammonemia circulatory 74 % 18620775 2015-12-21
Increased alkaline phosphatase circulatory 41 % 18620775 2015-12-21
Hypertriglyceridemia circulatory 32 % 18620775 2015-12-21
Increased blood bilirubin circulatory 21 % 18620775 2015-12-21
Disorientation nervous 21 % 18620775 2015-12-21
Hypercholesterolemia circulatory 19 % 18620775 2015-12-21
Coma nervous 16 % 18620775 2015-12-21
Pancreatitis digestive 13 % 18620775 2015-12-21
Jaundice digestive 5 % 18620775 2015-12-21
Tremor nervous 5 % 18620775 2015-12-21



List of references:


Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease.
Michiharu Komatsu, Masahide Yazaki, Naoki Tanaka, Kenji Sano, Etsuko Hashimoto, Yo-ichi Takei, Yuan-Zong Song, Eiji Tanaka, Kendo Kiyosawa, Takeyori Saheki, Toshifumi Aoyama, Keiko Kobayashi,



Journal of hepatology - Nov 2008