Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey

Journal of Inherited Metabolic Disease
J M SaudubrayP Parvy

Abstract

Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these diseases respond well to treatment but may otherwise be fatal, and in order to assure adequate prenatal diagnosis in subsequent pregnancies, a high index of suspicion and rapid diagnosis are necessary in the face of the clinical presentations described. According to three major clinical presentations observed in 218 neonates with inborn errors of intermediary metabolism (neurological distress 'intoxication' type, neurological distress 'energy-deficiency' type and hypoglycaemia with liver dysfunction) and according to the proper use of few laboratory investigations, we propose a method of diagnosis which groups these children into five categories. Initial therapy, and sophisticated investigations can be planned on the basis of this grouping.

References

Aug 1, 1978·Pediatric Clinics of North America·K A Aleck, L J Shapiro
Oct 26, 1978·The New England Journal of Medicine·R A BallardW L Nyhan
Jan 1, 1977·Current Problems in Pediatrics·G E Molnar, L T Taft
Apr 1, 1977·Current Problems in Pediatrics·W L Nyhan
Jan 1, 1989·Journal of Inherited Metabolic Disease·R B SchutgensH van den Bosch
Jan 1, 1987·Journal of Inherited Metabolic Disease·S DiMauroE A Schon
Jan 1, 1987·Enzyme·J M SaudubrayR Day
Jul 1, 1988·Journal of Medical Genetics·P T Clayton, E Thompson
Jan 1, 1986·Journal of Inherited Metabolic Disease·S J Wysocki, R Hähnel
Jan 1, 1987·Journal of Inherited Metabolic Disease·C Vianey-LiaudM Mathieu
Jan 1, 1987·Enzyme·S I GoodmanJ P Loehr
May 1, 1987·The Journal of Clinical Investigation·B A AmendtW J Rhead
Mar 1, 1972·The Journal of Clinical Investigation·J T Tildon, M Cornblath
Apr 14, 1983·The New England Journal of Medicine·S M MatsuiL E Rosenberg
Jan 1, 1984·Journal of Inherited Metabolic Disease·B H Robinson, W G Sherwood
Jun 1, 1983·Archives of Disease in Childhood·A BankierI J Hopkins
Aug 1, 1983·The Journal of Pediatrics·B WolfD L Hurst
Aug 1, 1981·The Journal of Pediatrics·L CathelineauJ M Saudubray

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Citations

Jan 1, 1993·Journal of Inherited Metabolic Disease·R A Harkness, E J Harkness
Jul 19, 2008·Pediatric Radiology·Alireza RadmaneshAmir A Zamani
Sep 28, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ivana PelaMarco Materassi
Oct 2, 2012·Indian Journal of Clinical Biochemistry : IJCB·M P NarayananD M Vasudevan
Dec 31, 2002·Archives of Medical Research·Moaçir WajnerCarmen Regla-Vargas
Jul 1, 1993·Baillière's Clinical Endocrinology and Metabolism·J W Gregory, A Aynsley-Green
Jun 1, 1997·Seizure : the Journal of the British Epilepsy Association·J Gibbs, R E Appleton
Jul 1, 1992·Archives of Disease in Childhood·J H Walter
Jan 1, 1991·Journal of Inherited Metabolic Disease·F RoelsD De Craemer
Jul 27, 2010·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·P de LonlayP Hubert
May 1, 1990·European Journal of Pediatrics·P Kamoun, P Tardy
Jan 1, 1994·European Journal of Pediatrics·G F HoffmannD Rating
Nov 11, 2008·Clinica Chimica Acta; International Journal of Clinical Chemistry·Moacir WajnerCarmen Regla Vargas
Mar 15, 2008·Clinica Chimica Acta; International Journal of Clinical Chemistry·Pornswan WasantToshihiro Shinka
Mar 13, 2014·Journal of Paediatrics and Child Health·Leyla BilginTugrul Tiryaki
Oct 12, 2004·The Veterinary Clinics of North America. Small Animal Practice·Simon R Platt, Laurent S Garosi
Jun 19, 2002·Seminars in Neonatology : SN·Hélène Ogier de Baulny
Apr 1, 1997·Science in China. Series C, Life Sciences·J Yue, S Pang
Mar 1, 1995·Plant Molecular Biology·Z KarvouniD Grierson
Jun 1, 1991·Plant Molecular Biology·D ChamovitzJ Hirschberg
Jun 1, 1995·In Vitro Cellular & Developmental Biology. Animal·L MargolisS A Simon
May 3, 2007·Journal of the American Animal Hospital Association·Simon PlattCornelis Jakobs
Jan 1, 1992·International Journal of Technology Assessment in Health Care·I Durand-ZaleskiC Blum-Boisgard
Nov 9, 2005·Médecine sciences : M/S·Nathalie BoddaertPascale de Lonlay

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