Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

ABSTRACT: In patients with 3-hydroxy-3-methylglutaryl(HMG)-CoA lyase deficiency (OMIM 246450), five pregnancies have been described worldwide, which were either terminated or resulted in severe metabolic sequelae during pregnancy or delivery. Here, we report on a patient with HMG-CoA lyase deficiency, who underwent two uncomplicated pregnancies. The 19-year-old patient was admitted because of recurrent vomiting and nausea. Diagnostics revealed pregnancy at week 8 of gestation. Metabolic analyses revealed normal lactate and blood glucose levels and normal acid-base status. Urine organic acid analysis showed an elevated excretion of 3-CH₃-glutaric acid, 2,3-CH₃-glutaconic acid, and 3-CH₃-3-OH-glutaric acid. Oral treatment with carnitine and glucose wes administered int

SUBMITTER: Santosa D 

PROVIDER: S-EPMC5740040 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature