Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.

ABSTRACT: Glutaric aciduria type 1 (GA1) is an autosomal recessive rare disorder caused by mutations in the GCDH gene resulting in deficiency of glutaryl-CoA dehydrogenase, leading to accumulation of the amino acids lysine, hydroxylysine and tryptophan and other metabolites. The phenotypic spectrum of disease is broad. Stress caused by infection and fever and possibly pregnancy may lead to worsening of the signs and symptoms, often with uncertain recovery.We describe a case of a female patient with GA1 who had two clinically uneventful pregnancies.At the age of 11 she was diagnosed with GA1 by family screening. The cultured skin fibroblast showed reduced glutaryl-CoA dehydrogenase activity (0.16 mg protein per min).The initial diagnostic urine glutaric acid level for this patient was 1,784 μmol/mmol

SUBMITTER: Stepien KM 

PROVIDER: S-EPMC6122047 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature