Mitochondrial oxidative phosphorylation disorders presenting in neonates: Clinical manifestations and enzymatic and molecular diagnoses

Abstract

OBJECTIVES. The goals were to examine the frequency of perinatal manifestations of mitochondrial oxidative phosphorylation disorders within a population-based cohort, to characterize these manifestations, to identify a possible association between these manifestations and diagnoses at a later age, and to identify possible associations between perinatal complications and specific disorders. Methods. We conducted a retrospective review of clinical and laboratory records for all patients with definitive oxidative phosphorylation disorders who were diagnosed and treated at the Royal Children's Hospital in Melbourne between 1975 and 2006 (N = 107;male/female ratio: 1.41). Results. Neonatal presen..