Inborn errors of metabolism: a clinical overview

São Paulo Medical Journal = Revista Paulista De Medicina
A M Martins


Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. A clinical review of inborn errors of metabolism (IEM) to give a practical approach to the physician with figures and tables to help in understanding the more common groups of these disorders. A systematic review of the clinical and biochemical basis of IEM in the literature, especially considering the last ten years and a classic textbook (Scriver CR et al, 1995). A selection of 108 references about IEM by experts in the subject was made. Clinical cases are presented with the peculiar symptoms of various diseases. IEM are frequently misdiagnosed because the general practitioner, or pediatrician in the neonatal or intensive care units, does not think about this diagnosis until the more common cause have been ruled out. This review includes inheritance patterns and clinical and laboratory findings of the more common IEM diseases within a clinical classification that give a general idea about these disorders. A summary of treatment types for metabolic inherited diseases is given. IEM are not rare diseases, unlike previous thinking ...Continue Reading


Sep 1, 1978·The American Journal of Medicine·N LameireS Ringoir
Dec 27, 1979·The New England Journal of Medicine·G DusheikoK Tanaka
Oct 1, 1992·Journal of the American Academy of Dermatology·S E AlbersN A Fenske
Nov 1, 1992·Archives of Disease in Childhood·M A Dixon, J V Leonard
Jul 1, 1992·Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN·P B Acosta, L Wright
Jul 1, 1992·Muscle & Nerve·J G PuigJ Gijón
May 11, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·K J FeliceH R Jones
Jan 1, 1991·Developmental Neuroscience·N BaumannJ C Turpin
Jan 1, 1991·Developmental Neuroscience·H W MoserA Bergin
Jan 1, 1991·Developmental Neuroscience·J C TurpinN Baumann
Apr 1, 1991·Archives of Internal Medicine·L A BurmeisterF Q Nuttall
Jan 1, 1990·Journal of Neurology, Neurosurgery, and Psychiatry·K KayembeH Carton
Feb 1, 1990·Pediatric Annals·L Waber
May 1, 1989·Journal of Neurology, Neurosurgery, and Psychiatry·P J ShawD Bates
Oct 1, 1989·Neurology·K D SethiF A Hommes
May 1, 1986·American Journal of Medical Genetics·R NavonA Frisch
Jul 1, 1988·Journal of Medical Genetics·P T Clayton, E Thompson
Feb 27, 1986·The New England Journal of Medicine·P C RoweS W Brusilow
Feb 3, 1973·Lancet·M J Peaston
Jan 19, 1984·The New England Journal of Medicine·Y T ChenJ B Sidbury
Jan 1, 1995·Journal of Inherited Metabolic Disease·P J Lee, J V Leonard
Oct 1, 1995·Mayo Clinic Proceedings·N M Lindor, P S Karnes
Dec 1, 1994·Pathology, Research and Practice·C Ridaura-Sanz
Jan 1, 1995·Annals of Neurology·W JohnstonE A Shoubridge
Sep 1, 1994·Annals of Clinical Biochemistry·H J Stern
Dec 1, 1994·Blood Reviews·P D Phatak, J D Cappuccio
Mar 1, 1994·The Journal of Pediatrics·M D RisN Leslie
Oct 1, 1993·Archives of Disease in Childhood·T M Cox
Feb 1, 1994·Annals of Internal Medicine·G M TalenteJ I Wolfsdorf
Jan 1, 1993·The Journal of Neuropsychiatry and Clinical Neurosciences·G I HurowitzW G Johnson
Jan 1, 1993·British Journal of Anaesthesia·T A CrozierD Kettler
Jan 1, 1993·European Neurology·L Chiadò-PiatL Palmucci
May 1, 1993·Pediatric Annals·R S Wappner
Feb 6, 1996·Proceedings of the National Academy of Sciences of the United States of America·I Mellon, G N Champe
May 1, 1996·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·M H Thornhill
Apr 1, 1996·Australian and New Zealand Journal of Medicine·R Couper
Jul 1, 1996·The Journal of Pediatrics·E J McKinnisC R Scott
Jul 1, 1996·European Journal of Pediatrics·H L LevyF de la Cruz

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