| Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. | |
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MedLine Citation:
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PMID: 7971759 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Prenatal diagnosis Volume: 14 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1994 Jul |
Date Detail:
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Created Date: 1994-12-16 Completed Date: 1994-12-16 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 577-81 Citation Subset: IM |
Affiliation:
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Department of Pediatrics and Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alcohol Oxidoreductases
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metabolism* Aldehyde Oxidoreductases / deficiency, metabolism* Amniocentesis Amniotic Fluid / cytology Cells, Cultured Child Chorionic Villi / enzymology Chorionic Villi Sampling Female Humans Male Pregnancy Prenatal Diagnosis / methods* Sjogren-Larsson Syndrome / diagnosis*, enzymology |
| Grant Support | |
ID/Acronym/Agency:
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DK41843/DK/NIDDK NIH HHS; M01 RR00065/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 1.1.-/Alcohol Oxidoreductases; EC 1.1.1.192/long-chain-alcohol dehydrogenase; EC 1.2.-/Aldehyde Oxidoreductases; EC 1.2.1.48/long-chain-aldehyde dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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