Genetic, Prenatal, and Preimplantation Genetic Diagnosis of Glutaric Aciduria Type I
نویسندگان
چکیده
منابع مشابه
Mutation analysis in glutaric aciduria type I.
Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large amounts of glutaric and 3-hydroxyglutaric acids...
متن کاملGlutaric aciduria type 1--importance of early diagnosis and treatment.
Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency...
متن کاملPrenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies.
Disorders of hemoglobin synthesis have been used as a prototype for the development of most approaches for prenatal diagnosis (PND). PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated approximately 30 years of experience. Disadvantages with conventional PND include 'invasive' fetal sampling and the need to terminate affected ongoing pregnancie...
متن کاملI-36: Preimplantation Genetic Diagnosis - Where Have We Been and Where Are We Going
Preimplantation genetic diagnosis (PGD) is now considered routine in IVF laboratories with micromanipulation capability and access to genetic diagnostic services. The past two decades have witnessed a dramatic increase in the use of PGD, the number of cycles performed, and the indications for which PGD has been used. This increase has been mirrored by a slow, but steady, increase in the range o...
متن کاملDiagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China
BACKGROUND Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China. MATERIAL/METHODS A total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Provinc...
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ژورنال
عنوان ژورنال: Current Opinion in Gynecology and Obstetrics
سال: 2021
ISSN: 2637-4617
DOI: 10.18314/cogo.v3i1.2068