This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Type II citrullinemia (CTLN2, Online Mendelian Inheritance in Man [OMIM] #603471) is an enzyme deficiency most often characterized by adult-onset recurrent encephalopathy associated with hyperammonemia, coma, and severe brain edema evolving into a subacute progressive or recurrent course.1 CTLN2 is characterized by a selective deficiency of liver-specific argininosuccinate synthetase protein in the urea cycle, but it is believed that the argininosuccinate synthetase gene is not a cause of this disorder.2 Genetic and biochemical studies of families with CTLN2 recently showed that the defect localized to chromosome 7q21.3 and suggested that the disorder is caused by a mutation of the gene SLC25A13 encoding the protein citrin, which is expressed most abundantly in the liver.3 Citrin is believed to work as a calcium-dependent mitochondrial solute transporter with a crucial role in urea cycle function.
Patients with CTLN2 have significantly increased expression of pancreatic secretory trypsin inhibitor (PSTI) mRNA in the liver and high PSTI levels in serum.4,5⇓ PSTI is a secretory protein, and serum PSTI has been proposed as a …
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Alert Me
Recommended articles
Clinical Reasoning: An encephalopathic 3-day-old infant
Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome
Valproate as a Cause of Hyperammonemia in Heterozygotes With ornithine-transcarbamylase Deficiency
Meta-analysis of magnetic resonance spectroscopy in the diagnosis of hepatic encephalopathy