Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia
نویسندگان
چکیده
منابع مشابه
Birth of a healthy female after preimplantation genetic diagnosis for Charcot-Marie-Tooth type X.
The X-linked dominant form of Charcot-Marie-Tooth syndrome (CMTX) is a clinically and genetically heterogeneous hereditary disorder of the peripheral nerves caused by mutations in the GJB1 gene that encodes a gap junction protein named connexin 32 (Cx32). Clinically, CMTX is characterized by peripheral motor and sensory deficit with muscle atrophy. A couple with a previous history of pregnancy ...
متن کاملAntenatal nephromegaly and propionic acidemia: a case report
BACKGROUND Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION We report the case o...
متن کاملPreimplantation genetic diagnosis for cystic fibrosis: a case report
Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternativ...
متن کاملPropionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder
OBJECTIVE Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. MATERIALS & METHODS The patients diagnosed as having propionic acidemia in Neurology D...
متن کاملNatural history of propionic acidemia.
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2010
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-010-9514-4