Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.

ABSTRACT:

Background

Neonatal lactic acidosis can be associated to severe inborn errors of metabolism. Rapid identification of the underlying disorder may improve the clinical management through reliable counseling of the parents and adaptation of the treatment.

Methods

We present the case of a term newborn with persistent hypoglycemia on postnatal day 1, who developed severe lactic acidosis, aggravating under intravenous glucose administration. Routine metabolic investigations revealed elevated pyruvate and lactate levels in urine, and magnetic resonance spectroscopy showed a lactic acid peak and decreased N-acetylaspartate levels. Mitochondrial disorders, e.g., pyruvate dehydrogenase (PDH) deficiency, were the major differential diagnoses. However, both hypoglycemia and the elevated

SUBMITTER: Fazeli W 

PROVIDER: S-EPMC4912540 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature