Clinical signs of citrin deficiency mimic anorexia nervosa

July 21, 2015
Clinical signs of citrin deficiency mimic anorexia nervosa
The clinical features of citrin deficiency may mimic those of anorexia nervosa, according to a case report published online July 20 in Pediatrics.

(HealthDay)—The clinical features of citrin deficiency (CD) may mimic those of anorexia nervosa (AN), according to a case report published online July 20 in Pediatrics.

Satsuki Takeuchi, M.D., from the Matsumoto Medical Center of Chu-shin-Matsumoto Hospital in Japan, and colleagues reported the case of a 12-year-old female presenting with severe anorexia and , mimicking the restricting type of AN. The patient showed normal development up to age 10 when she started to play volleyball at school. Thereafter, she became anorexic, and her growth was stunted. She was admitted to the hospital with severe and thinness at age 12.

The patient was initially thought to have AN and was given a drip infusion of glucose solution and high-calorie drinks, but her condition declined further. Having a history of neonatal hepatitis, she was suspected of having a CD. A diagnosis was made after genetic analysis of SLC25A13, which showed that she was compound heterozygous for 851del4 and IVS16ins3kb. She was started on a with oral intake of arginine and ursodeoxycholic acid; gradual improvement was seen in her condition.

"The clinical features in our patient were similar to those of AN, and therefore AN may also be an important clinical sign in adolescent patients with CD," the authors write.

Explore further: Faster weight gain can be safe for hospitalized anorexia patients

More information: Abstract
Full Text (subscription or payment may be required)

Related Stories

Faster weight gain can be safe for hospitalized anorexia patients

July 14, 2015
A new study led by Johns Hopkins Medicine researchers of patients hospitalized with anorexia nervosa shows that a faster weight gain during inpatient treatment—well beyond what national standards recommend—is safe and ...

More rapid refeeding protocol seems safe in anorexia nervosa

February 16, 2015
(HealthDay)—Refeeding patients with anorexia nervosa to achieve more rapid weight gain can be safe and effective in a hospital-based protocol, according to a study published online Jan. 27 in the International Journal of ...

Delayed diagnosis of celiac disease may put lives at risk: Is screening the solution?

April 24, 2015
Coeliac disease is one of the most common life-long conditions in Europe, yet many people remain undiagnosed and lengthy diagnostic delays may be putting lives at risk. Today, doctors are being urged to consider testing for ...

Gene loss creates eating disorder-related behaviors in mice

April 9, 2015
Building on their discovery of a gene linked to eating disorders in humans, a team of researchers at the University of Iowa has now shown that loss of the gene in mice leads to several behavioral abnormalities that resemble ...

New approach to diagnosing anorexia nervosa

January 9, 2012
(Medical Xpress) -- A new approach for diagnosing patients with anorexia nervosa has been developed at the University of Sydney. The approach could have a significant impact on the treatment and recovery of sufferers, as ...

Herpes simplex virus can mimic premature rupture of membranes

July 9, 2015
(HealthDay)—Unique presentation of herpes simplex virus infection in pregnancy can be misdiagnosed as premature rupture of membranes (PROM), according to a case report published in the August issue of Obstetrics & Gynecology.

Recommended for you

Cannabis—it matters how young you start

May 18, 2018
Canadian researchers find that boys who start smoking pot before 15 are much more likely to have a drug problem at 28 than those who start at 15 or after.

Long legs turn women's heads, arm length immaterial: study

May 16, 2018
Labouring over the age-old question "What do women look for in men?", scientists added an item to the list Wednesday: legs slightly longer than average, with a good shin-to-thigh ratio.

Elevated homocysteine identified as metabolic risk factor for neurodegenerative diseases

May 16, 2018
The amino acid homocysteine occurs naturally in the human body, generated as a byproduct of methionine metabolism. Genetic diseases or an imbalanced diet, with too much red meat or deficiencies in B vitamins and folic acid, ...

Researchers find clues to treating psychoses in mental health patients

May 16, 2018
Psychotic disorders often are severe and involve extreme symptoms such as delusions or hallucinations in which people lose their sense of reality. Researchers at the University of Missouri recently found evidence that boosting ...

Most deprived are nearly twice as likely to develop dementia

May 16, 2018
Older adults in England with fewer financial resources are more likely to develop dementia, according to new UCL research.

People make different moral choices in imagined versus real-life situations

May 16, 2018
Researchers often use hypothetical scenarios to understand how people grapple with moral quandaries, but experimental results suggest that these scenarios may not always reflect real-life behavior. The findings, published ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.