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Late Onset LAL Deficiency (CESD) Literature Review Published In The Journal Of Hepatology

Stocks in this article: GEVA

Synageva BioPharma Corp. (Synageva) (NASDAQ:GEVA), a clinical stage biopharmaceutical company developing therapeutic products for rare diseases, announced the publication of an article by Bernstein et al entitled, “Cholesteryl Ester Storage Disease: Review of the Findings in 135 Reported Patients with an Under-Diagnosed Disease” in the online version and an upcoming print edition of the Journal of Hepatology.

“We performed the most comprehensive review and analysis of late onset LAL Deficiency, or cholesteryl ester storage disease, cases found in the literature,” said Donna Bernstein, MS, CGC, the lead author and a genetic counselor in the Division of Medical Genetics, Director of the Lysosomal Storage Disease Program at North Shore-Long Island Jewish Health System. “Based on this review, we found that the abnormal fat accumulation in liver cells, adrenal glands, intestines, and macrophages due to LAL Deficiency can lead to cirrhosis, high LDL, low HDL, accelerated atherosclerosis, and early demise,” said Robert J. Desnick, MD, PhD, senior author of the study and Dean for Genetic and Genomic Medicine, Professor and Chairman Emeritus, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Hospital. “LAL Deficiency may present in infancy, childhood, or adulthood but because the diagnosis is challenging, it is likely that many adult CESD patients, in particular, are being misclassified as having NAFLD, NASH, unexplained liver disease, familial hypercholesterolemia, or remain undiagnosed before succumbing to liver failure, stroke, myocardial infarction, or sudden death.”

About the late onset LAL Deficiency literature review

The literature review included 135 cases found in the published scientific literature for whom clinical information was reported. The median age of earliest symptom onset and/or diagnosis of the cases reviewed was 5 years (range from birth to 68 years), with greater than 80% experiencing symptom and/or disease onset by 12 years of age. The review excluded patients diagnosed with early onset LAL Deficiency (or Wolman disease) who died in the first year of life.

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