Abstract
Over 400 rare, biochemically diverse genetic metabolic disorders (inborn errors of metabolism) have been described and the list is growing by the month. Although recent advances in the diagnosis and treatment of these disorders have substantially improved the prognosis for many of them, including those presenting in the neonatal period, a proportion of affected individuals die before the diagnosis can be confirmed and, in some cases, before the diagnosis is even considered. This review will provide an outline of the range of clinical presentations seen in neonates with genetic metabolic disorders and provide a practical approach for rapid biochemical screening for these disorders. In addition, suggested guidelines are given for the collection of relevant samples in the perimortem period, the aim being to maximize the chance of identifying any underlying genetic metabolic disorder.
References
Mar 1, 1992·American Journal of Human Genetics·J Poulton
Jan 1, 1989·Pediatric Pathology·D E McFadden, G P Taylor
Nov 1, 1989·American Journal of Medical Genetics·G A Machin
Apr 1, 1984·Clinical Biochemistry·A Anderson
Jul 1, 1993·Fetal Diagnosis and Therapy·J WisserA Roithmeier
Nov 18, 1998·Annals of Neurology·M R BaumgartnerJ M Saudubray
Dec 2, 1998·Pediatrics·B K Burton
Jan 8, 1999·The New England Journal of Medicine·M J KupfermincJ B Lessing
Jul 29, 1999·The New England Journal of Medicine
Mar 29, 2000·Human Mutation·E Mornet
Nov 14, 2000·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Y AubardM Cantaloube
Jan 12, 2001·Obstetrics and Gynecology·C J GlueckA Eldor
Aug 25, 2001·Neuropediatrics·D HaasG F Hoffmann
Apr 1, 1993·Fetal Diagnosis and Therapy·Victor B Penchaszadeh
Dec 18, 2001·Seminars in Liver Disease·P Rinaldo
Jan 26, 2002·Prenatal Diagnosis·Shmuel ArnonOrly N Elpeleg
Oct 2, 2002·Journal of Paediatrics and Child Health·C J EllawayJ Christodoulou
Apr 1, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A Ben-HaroushB Kaplan
Feb 14, 2006·Nature Clinical Practice. Urology·Nasser Albqami, Günter Janetschek
Citations
Jun 29, 2006·Journal of Clinical Pathology·H C Wainwright
Jul 15, 2004·Seminars in Neonatology : SN·Halit Pinar
Jun 12, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·I Marín-ValenciaJ Campistol
Jan 26, 2012·Fetal and Pediatric Pathology·Jing PengFei Yin
Nov 4, 2006·Journal of Magnetic Resonance Imaging : JMRI·Jocelyn S Brookes, Cornelia Hagmann
Mar 21, 2009·Human Gene Therapy·Joost H van den BergJohn B A G Haanen
Mar 14, 2009·The Neurologist·Juan M PascualAntonio Gil-Nagel