Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Mutation analysis was performed in eight families (16 patients) with glutaric aciduria type I (GA-I), which were all the families diagnosed in Israel in the years 1987-1994. Six families were of Moslem origin and two were non-Ashkenazi Jews. The entire coding region of the cDNA of the glutaryl-CoA dehydrogenase gene was sequenced in one patient of each family. Seven new mutations were identified in 15 of 16 mutated alleles, including six point mutations: T416I (4 alleles), G390R (1 allele), and S305L, A293T, L283P, and G1O1R (2 alleles each). In addition, a 1-bp deletion at position 1173 was identified in two alleles. These findings do not provide a molecular basis for the clinical variability in GA-I families. The occurrence of multiple novel mutations in a small geographic area may be explained by their recent onset in isolated communities with a high consanguinity rate.
Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem.
Y
Y
Anikster
A
A
Shaag
A
A
Joseph
H
H
Mandel
B
B
Ben-Zeev
E
E
Christensen
O N
ON
Elpeleg
D000328:Adult; D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D018912:Arabs; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D007557:Israel; D007585:Jews; D008297:Male; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D017354:Point Mutation
D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase