The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

@article{Pipitone2016TheMO,
  title={The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.},
  author={Angela Pipitone and Donna B. Raval and Jessica Duis and Hilary J Vernon and Regina Matsunaga Martin and Ada Hamosh and David Valle and Meral Gunay-Aygun},
  journal={American journal of medical genetics. Part A},
  year={2016},
  volume={170 6},
  pages={
          1600-2
        }
}
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated. The patient is a 28-year-old female with HMG-CoA lyase deficiency who presented at 4 weeks gestation for prenatal care. Protein intake as well as carnitine supplementation were gradually increased to support maternal and fetal demands up to 65 g per day for… CONTINUE READING

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