Document Detail

Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.
MedLine Citation:
PMID:  19696711     Owner:  NLM     Status:  MEDLINE    
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease with multi-organ involvement. The clinical manifestations usually start at infancy and develop during the first and second decades of life; infantile-onset diarrhea may be the earliest clinical manifestation of CTX. Additional clinical manifestations are juvenile cataracts, tendon xanthomas, and multiple progressive neurological symptoms. Systemic manifestations that are often found include osteoporosis, heart involvement and premature arteriosclerosis. CTX is caused by mutations in the sterol 27 hydroxylase gene (CYP27) on chromosome 2q35-qter, which is responsible for conversion of cholesterol to cholic and chenodeoxycholic acid. Reduced synthesis of cholic and chenodeoxycholic acid results in failed feedback inhibition of cholesterol production, which in turn leads to increased serum cholestanol concentration and elevated urinary bile alcohols. Early treatment with chenodeoxycholic acid (CDCA) prevents the clinical symptoms and prevents deterioration. Although CTX is rare world wide, genetic islands of high frequency have been reported. In this review we would like to familiarize the reader with this fatal inborn error of metabolism that is possibly under-diagnosed and is preventable once recognized and treated.
Zohar Keren; Tzipora C Falik-Zaccai
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Pediatric endocrinology reviews : PER     Volume:  7     ISSN:  1565-4753     ISO Abbreviation:  Pediatr Endocrinol Rev     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-21     Completed Date:  2009-09-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101202124     Medline TA:  Pediatr Endocrinol Rev     Country:  Israel    
Other Details:
Languages:  eng     Pagination:  6-11     Citation Subset:  IM    
Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel.
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MeSH Terms
Chenodeoxycholic Acid / therapeutic use
Cytochrome P-450 CYP27A1 / deficiency,  genetics
Gastrointestinal Agents / therapeutic use
Genetic Counseling
Genetic Screening
Treatment Outcome
Xanthomatosis, Cerebrotendinous / diagnosis*,  drug therapy*,  enzymology,  genetics
Reg. No./Substance:
0/Gastrointestinal Agents; 474-25-9/Chenodeoxycholic Acid; EC 1.14.-/Cytochrome P-450 CYP27A1

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