Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

摘要: Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are hallmarks this disease. In communication, we present clinical, biochemical molecular profile seventeen GA patients from 15 unrelated families India report seven novel mutations in GCDH gene (c.281G>A (p.Arg94Gln), c.401A>G (p.Asp134Gly), c.662T>C (p.Leu221Pro), c.881G>C (p.Arg294Pro), c.1173dupG (p.Asn392Glufs*5), c.1238A>G (p.Tyr413Cys) c.1241A>C (p.Glu414Ala)). Out these, (p.Leu221Pro) exon 8 c.281G>A (p.Arg94Gln) allele 4 were low excretor alleles, whereas (p.Glu414Ala), c.1207C>T (p.His403Tyr) 11 high alleles. We conclude that c.1204C>T (p.Arg402Trp) probably most common mutant allele. Exons hot spot regions Indian with I. An early diagnosis timely intervention can improve underlying prognosis. Molecular confirmation helpful providing genetic counselling prenatal subsequent pregnancy.