Literature DB >> 3525177

"Inborn errors of metabolism" and "chemical individuality", two ideas of Sir Archibald Garrod briefly revisited 50 years after his death.

G R Burgio.   

Abstract

Two ideas of Sir A. Garrod, "chemical individuality" (1902) and "inborn errors of metabolism" (1908) have proved fundamental for the development of medical knowledge. The latter idea was more fortunate than the former which, however has been extremely heuristic. On the other hand the two ideas are not entirely independent of each other: in fact, a third Garrodian concept, "inborn factors in disease", represents a significant link between them. "Inborn errors of metabolism" revived the laws of genetics and opened the way to interpretation of the molecular diseases with all their inherent practical modern implications (neonatal screening, prenatal diagnosis, and in perspective, genetic engineering). "Chemical individuality" still constitutes a valid premise for knowledge of biological individuality (in other words, the "biological ego") fundamentally programmed for conservation of self and for continuous discrimination of self versus non-self.

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Year:  1986        PMID: 3525177     DOI: 10.1007/bf00441842

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  37 in total

1.  The amino-acid sequence in the phenylalanyl chain of insulin. I. The identification of lower peptides from partial hydrolysates.

Authors:  F SANGER; H TUPPY
Journal:  Biochem J       Date:  1951-09       Impact factor: 3.857

2.  Sir Archibald Garrod's conception of chemical individuality: a modern appreciation.

Authors:  B Childs
Journal:  N Engl J Med       Date:  1970-01-08       Impact factor: 91.245

3.  Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.

Authors:  J A Boyle; K O Raivio; K H Astrin; J D Schulman; M L Graf; J E Seegmiller; C B Jacobsen
Journal:  Science       Date:  1970-08-14       Impact factor: 47.728

4.  Molecular cloning and characterization of the human beta-like globin gene cluster.

Authors:  E F Fritsch; R M Lawn; T Maniatis
Journal:  Cell       Date:  1980-04       Impact factor: 41.582

5.  [Prenatally recognizable enzymopathies, metabolic disorders].

Authors:  H Bickel
Journal:  Monatsschr Kinderheilkd       Date:  1975-05

6.  Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells.

Authors:  Y W Kan; A M Dozy
Journal:  Lancet       Date:  1978-10-28       Impact factor: 79.321

7.  Presidential address to the American Association of Immunologists, delivered in Anaheim, California, April 13, 1976. Runestones in immunology: inscriptions to journeys of discovery and analysis.

Authors:  R A Good
Journal:  J Immunol       Date:  1976-11       Impact factor: 5.422

8.  Development of IgE and allergy in infancy.

Authors:  H A Orgel; R N Hamburger; M Bazaral; H Gorrin; T Groshong; M Lenoir; J R Miller; W Wallace
Journal:  J Allergy Clin Immunol       Date:  1975-10       Impact factor: 10.793

9.  The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

Authors:  J Lauer; C K Shen; T Maniatis
Journal:  Cell       Date:  1980-05       Impact factor: 41.582

10.  Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Authors:  B J Wainwright; P J Scambler; J Schmidtke; E A Watson; H Y Law; M Farrall; H J Cooke; H Eiberg; R Williamson
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

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  3 in total

Review 1.  Immunological features of diffuse connective tissue diseases.

Authors:  G R Burgio; A Martini
Journal:  Eur J Pediatr       Date:  1990-01       Impact factor: 3.183

2.  A notation on individuality, 50 years after the death of Sigmund Freud. Toward a "biological Ego"?

Authors:  G R Burgio; L Nespoli
Journal:  Eur J Pediatr       Date:  1989-10       Impact factor: 3.183

Review 3.  The salience of Garrod's 'molecular groupings' and 'Inborn Factors in Disease'.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

  3 in total

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