Document Detail

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
MedLine Citation:
PMID:  7971759     Owner:  NLM     Status:  MEDLINE    
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the presence of congenital ichthyosis, mental retardation, and spasticity. The primary biochemical defect in SLS has recently been identified to be a deficiency of fatty aldehyde dehydrogenase (FALDH), which is a component of fatty alcohol:NAD+ oxidoreductase (FAO). We monitored four pregnancies at risk for SLS by measuring FAO and FALDH in cultured amniocytes or cultured chorionic villus cells. The enzymatic results in one case using amniocytes obtained during the second trimester predicted an affected SLS fetus, which was confirmed at termination of the pregnancy. Another at-risk fetus was predicted to be affected with SLS using cultured chorionic villus cells obtained in the first trimester, and fetal skin fibroblasts confirmed a profound deficiency of FAO and FALDH. Two other fetuses were correctly predicted to be unaffected. These results demonstrate that SLS can be diagnosed prenatally using enzymatic methods.
W B Rizzo; D A Craft; T L Kelson; J P Bonnefont; J M Saudubray; J D Schulman; S H Black; K Tabsh; M Dirocco; R J Gardner
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  14     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1994 Jul 
Date Detail:
Created Date:  1994-12-16     Completed Date:  1994-12-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  577-81     Citation Subset:  IM    
Department of Pediatrics and Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298.
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MeSH Terms
Alcohol Oxidoreductases / metabolism*
Aldehyde Oxidoreductases / deficiency,  metabolism*
Amniotic Fluid / cytology
Cells, Cultured
Chorionic Villi / enzymology
Chorionic Villi Sampling
Prenatal Diagnosis / methods*
Sjogren-Larsson Syndrome / diagnosis*,  enzymology
Grant Support
Reg. No./Substance:
EC 1.1.-/Alcohol Oxidoreductases; EC dehydrogenase; EC 1.2.-/Aldehyde Oxidoreductases; EC dehydrogenase

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