Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

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 identi...

Full description

Saved in:
Bibliographic Details
Published in:Pediatrics (Evanston) 2008-11, Vol.122 (5), p.1003-1008
Main Authors: Gibson, Kate, Halliday, Jane L, Kirby, Denise M, Yaplito-Lee, Joy, Thorburn, David R, Boneh, Avihu
Format: Article
Language:English
Subjects:
Babies
Biological and medical sciences
Birth Weight
Care and treatment
Deoxyribonucleic acid
Diagnosis
Diseases
Diseases of mother, fetus and pregnancy
DNA
DNA Mutational Analysis
Electron Transport Complex I - deficiency
Electron Transport Complex III - deficiency
Errors of metabolism
Female
Fetal Growth Retardation - epidemiology
General aspects
Genetic disorders
Gynecology. Andrology. Obstetrics
Humans
Infant
Infant, Newborn
Infants (Newborn)
Male
Medical diagnosis
Medical sciences
Mental retardation
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mitochondrial diseases
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - epidemiology
Mitochondrial Diseases - genetics
Mitochondrial Diseases - metabolism
Mutation
Neonatal diseases
Oxidative Phosphorylation
Pediatrics
Pregnancy. Fetus. Placenta
Retrospective Studies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. 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). Neonatal presentation was recorded for 32 of 107 patients (male/female ratio: 1:1), including 19 who presented on day 1 of life. Prematurity (gestational age of
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2007-3502