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Titolo:
WHOLE-BLOOD LEVELS OF DODECANOIC ACID, A ROUTINELY DETECTABLE FORENSIC MARKER FOR A GENETIC-DISEASE OFTEN MISDIAGNOSED AS SUDDEN-INFANT-DEATH-SYNDROME (SIDS) - MCAD DEFICIENCY
Autore:
KEMP PM; LITTLE BB; BOST RO; DAWSON DB;
Indirizzi:
UNIV TEXAS,SW MED CTR,DEPT OBSTET & GYNECOL,DIV PRENATAL DIAG & CLIN GENET DALLAS TX 75235 LOUISIANA STATE UNIV,MED CTR,DEPT PHARMACOL SHREVEPORT LA 00000
Titolo Testata:
The American journal of forensic medicine and pathology
fascicolo: 1, volume: 17, anno: 1996,
pagine: 79 - 82
SICI:
0195-7910(1996)17:1<79:WLODAA>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
COA DEHYDROGENASE-DEFICIENCY; COENZYME-A DEHYDROGENASE; INHERITED DISORDERS; CIS-4-DECENOIC ACID; CHAIN; OXIDATION; METABOLISM; DIAGNOSIS; PLASMA;
Keywords:
SIDS; INBORN ERRORS OF METABOLISM; MCAD DEFICIENCY; GC/MS; FATTY ACID OXIDATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
P.M. Kemp et al., "WHOLE-BLOOD LEVELS OF DODECANOIC ACID, A ROUTINELY DETECTABLE FORENSIC MARKER FOR A GENETIC-DISEASE OFTEN MISDIAGNOSED AS SUDDEN-INFANT-DEATH-SYNDROME (SIDS) - MCAD DEFICIENCY", The American journal of forensic medicine and pathology, 17(1), 1996, pp. 79-82

Abstract

We investigated whether or not elevated whole blood dodecanoic acid concentration was due to a beta-oxidation defect in fatty acid metabolism previously reported. We prospectively analyzed blood from 55 consecutive sudden infant death syndrome (SIDS) cases for fatty acid concentrations by gas chromatograph. Three of 55 cases had elevated dodecanoic acid concentrations (greater than or equal to 18.4 mg/L). The three SIDS cases with elevated blood dodecanoic acid were confirmed to have medium chain acyl-CoA dehydrogenase (MCAD) deficiency by outside laboratories, indicating that elevated dodecanoic acid is highly specific and sensitive for predicting MCAD deficiency in SIDS victims. Dodecanoic acid was easily detected in routine toxicology for acid and neutral drugs done at autopsy. MCAD deficiency is an autosomal recessive genetic disease, carrying a 25% recurrence risk. Families should be notified that siblings, both presently living and yet to be born, should be screened for this deficiency because MCAD deficiency can be treated, and sudden, unexplained infant deaths of living and subsequent offspringcan be prevented.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 10:58:16