studies

1236A AASLD ABSTRACTS HEPATOLOGY, October, 2015
encoded genes related to oxidative phosphorylation, including
succinate dehydrogenase A (Sdha), a major catalytic subunit
of the succinate-ubiquinone oxidoreductase, a complex of the
mitochondrial respiratory chain. Of note, maternal choline
maintained control levels of gene transcript levels of Sdha.
Conclusions. Fetal and 24 week old livers of a mouse model
of WD are characterized by changes in transcript levels of
genes related to the oxidative phosphorylation pathway which
is also involved in neurological diseases and these findings
were prevented by maternal choline supplementation. Since
these findings were present in both fetal and 24 week old tx-j
livers, they may influence WD phenotype.
Disclosures:
The following authors have nothing to disclose: Valentina Medici, Noreene Shibata,
Charles H. Halsted, Janine M. LaSalle
2110
Association between Psoas Muscle FDG Uptake and
Metabolic Syndrome by 18F-Fluorodeoxyglucose Positron
Emission Tomography: May psoas muscle FDG
uptake use as a biomarker for impaired metabolic
health?
Seung Min Lee 1 , Dae Won Jun 2 , Yong Kyun Cho 3 , Eun Chul Jang 4 ,
Joo Hee Kwak 2 ; 1 Department of Food and Nutrition, Sungshin
Women’s University, Seoul, Korea (the Republic of); 2 Department
of Internal Medicine, Hanyang University College of Medicine,
Seoul, Korea (the Republic of); 3 Department of Internal Medicine,
Kangbuk Samsung Hospital, Sungkyunkwan University, School of
Medicine, Seoul, Korea (the Republic of); 4 Department of Occupational
and Environmental Medicine, Soonchunhyang University
Cheonan Hospital, Cheonan, Korea (the Republic of)
Purpose: To identify metabolic activity of several organs
responsible for the glucose metabolism on 18 F-FDG PET/CT
according to several metabolic phenotypes and to evaluate
whether it could be used to predict the metabolic health impairment.
Methods: We retrospectively analyzed the data from
157 subjects who underwent 18 F-FDG PET/CT for health medical
examination. Liver function test, total cholesterol, triglyceride,
and fasting blood glucose (FBG) level as well as presence
of metabolic syndrome (MS) were evaluated in these subjects.
Fixed or flexible spherical volume of interest (VOIs) were used
to evaluate maximal and/or mean standardized uptake value
(SUV) to assess the metabolism of liver, pancreas, mesenteric
visceral fat, psoas muscle, and abdominal subcutaneous fat on
18 F-FDG PET/CT. Effect of SUVs in each organ on the clinical
metabolic parameters as well as on the presence of MS were
analyzed for statistical significance. Results: 52 subjects (33.1
%) were obese with a body mass index (BMI) > 25 and forty
subjects (40/157, 25%) had MS. SUVmax of psoas muscle,
mesenteric visceral fat, and abdominal subcutaneous fat as
well as SUVmean of liver were positively correlated with BMI,
weight and FBG, after adjusted by FBG. SUVmax of psoas
muscle, visceral fat, and pancreas were significantly higher in
the subjects with obesity and in the subject with MS (p for trend
< 0.05). Among them, SUVmax of psoas muscle was found
to be only risk factor for the presence of MS independent to
weight and FBG. With the cutoff value of 1.34, SUVmax of
psoas muscle accurately predicted MS, central obesity, and
hypertension (AUROC 0.779, 0.810, and 0.646, respectively,
p < 0.05). Conclusion: SUVmax of psoas muscle on the 18 F-
FDG PET/CT is well associated with various clinical metabolic
parameters and it could be used to predict the metabolic health
impairment. Moreover, it could be valuable tool to sort metabolically
healthy or abnormal especially in the obese subjects.
Disclosures:
The following authors have nothing to disclose: Seung Min Lee, Dae Won Jun,
Yong Kyun Cho, Eun Chul Jang, Joo Hee Kwak
2111
Pitfalls in Erythrocyte Protoporphyrin Measurement for
Diagnosis and Monitoring of Protoporphyrias
Eric Gou 1 , Manisha Balwani 3 , D Montgomery Bissell 4 , Joseph
R. Bloomer 5 , Herbert L. Bonkovsky 2 , Robert J. Desnick 3 , John D.
Phillips 6 , Ashwani Singal 5 , Bruce M. Wang 4 , Hetanshi Naik 3 ,
Karl E. Anderson 1 ; 1 Preventive Medicine and Community Health,
University of Texas Medical Branch, Galveston, TX; 2 Wake Forest
University, Winston-Salem, NC; 3 Icahn School of Medicine at Mt.
Sinai, New York, NY; 4 University of California San Francisdo, San
Francisco, CA; 5 Universtiy of Alabama Birmingham, Birmingham,
AL; 6 University of Utah, Salt Lake City, UT
Erythropoietic protoporphyria (EPP) is due to the inherited
deficiency of ferrochelatase, the enzyme that catalyzes the
chelation of iron with protoporphyrin IX to complete heme biosynthesis.
Increased erythrocyte and plasma protoporphyrin
levels in EPP cause painful photosensitivity and impair quality
of life. EPP is the third most common porphyria, the most common
in children and its diagnosis is often delayed. Diagnosis
of EPP requires: (1) a marked increase in total erythrocyte protoporphyrin
(300-5,000 ug/dL erythrocytes) and (2) a predominance
(85-100%) of metal-free protoporphyrin. X-linked
protoporphyria (XLP) is less common and is due to gain of function
mutations of the erythroid form of d-aminolevulinic acid
synthase, the first enzyme in the heme biosynthetic pathway.
XLP causes a similar increase in total erythrocyte protoporphyrin
but with a somewhat lower fraction of metal-free protoporphyrin
(50-85% of the total). The Porphyrias Consortium (PC)
has enrolled more than 180 patients with EPP and XLP. Among
the few patients with original laboratory reports of erythrocyte
protoporphyrin levels, 15 appeared to have much higher levels
(4.7 to 46.7 fold) when enrolled in studies at a PC Center. The
diagnosis had been missed in 2 of these patients based on
the earlier spurious results. All of the prior reports were from
either Quest or LabCorp, which use only hematofluorometry for
assessing erythrocyte protoporphyrin. The hematofluorometer
was developed to screen for lead poisoning, and measures
zinc protoporphyrin by front surface fluorescence using a drop
of blood. The instrument displays two calculations based on
assumed hematocrits each specified by OSHA and CDC, and
variously reports results as “free” and “zinc” protoporphyrin
(with different reference ranges), implying separate measurements
of metal-free and zinc protoporphyrin. These reports are
misleading and impair diagnosis and monitoring of patients
with protoporphyria. This is concerning because reproducible
methods are needed for diagnosis and longitudinal monitoring
of erythrocyte protoporphyrin, as rising levels may predict
severe hepatic complications requiring liver transplantation.