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Titolo:
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews
Autore:
Shaag, A; Saada, A; Berger, I; Mandel, H; Joseph, A; Feigenbaum, A; Elpeleg, ON;
Indirizzi:
Shaare Zedek Med Ctr, Metab Dis Unit, IL-91031 Jerusalem, Israel Shaare Zedek Med Ctr Jerusalem Israel IL-91031 L-91031 Jerusalem, Israel Rambam Med Ctr, Dept Pediat, Haifa, Israel Rambam Med Ctr Haifa IsraelRambam Med Ctr, Dept Pediat, Haifa, Israel Shaare Zedek Med Ctr, Neuropediat Unit, Jerusalem, Israel Shaare Zedek MedCtr Jerusalem Israel uropediat Unit, Jerusalem, Israel Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 82, anno: 1999,
pagine: 177 - 182
SICI:
0148-7299(19990115)82:2<177:MBOLDD>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN DIHYDROLIPOAMIDE DEHYDROGENASE; PYRUVATE; IDENTIFICATION; RECURRENT; MUTATIONS; COMPONENT; COMPLEXES; SEQUENCE; DISEASE; AMINO;
Keywords:
lipoamide dehydrogenase deficiency; lactic acidemia; metabolic liver disease; Ashkenazi Jews;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Elpeleg, ON Shaare Zedek Med Ctr, Metab Dis Unit, IL-91031 Jerusalem, Israel Shaare Zedek Med Ctr Jerusalem Israel IL-91031 salem, Israel
Citazione:
A. Shaag et al., "Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews", AM J MED G, 82(2), 1999, pp. 177-182

Abstract

We studied 13 patients with lipoamide dehydrogenase (LAD) deficiency, originating from seven Ashkenazi Jewish families. Their disease was characterized by recurrent attacks of vomiting, abdominal pain, and encephalopathy accompanied by elevated liver transaminases, prolonged prothrombin time, and occasionally associated with lactic and ketoacidemia or with myoglobinuria. Two patients who presented neonatally suffered from residual neurological damage with attention deficit hyperactive disorder, mild ataxia, motor incoordination, muscle hypotonia, and weakness. Nine patients who presented in early childhood or later suffered from exertional fatigue between decompensation episodes but were otherwise asymptomatic. Two patients died because ofintractable metabolic acidosis and multi-organ failure. In all patients LAD activity was reduced to 8 to 21% of the control in muscle or lymphocytes. In four patients LAD protein in muscle was reduced to 20 to 60% of the control. Direct sequencing of the cDNA of the LAD gene showed that 12 of the 14 mutated alleles carried the G229C mutation and two carried an insertion mutation 105insA (Y35X). The patients who presented neonatally and had more severe sequelae were compound heterozygotes for the two mutations; patientswho presented in early childhood or later were homozygous for the G229C mutation. Using an allele-specific oligonucleotide hybridization technique, nine heterozygotes for the G229C mutation were identified among 845 anonymous individuals of Ashkenazi Jewish origin disclosing a carrier rate of 1:94. Because of the significant morbidity associated with the disease, screening for the G229C mutation among Ashkenazi Jewish couples should be considered. (C) 1999 Wiley-Liss, Inc.

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Documento generato il 30/09/20 alle ore 09:39:22