Literature DB >> 18850300

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Charles R Scriver1.   

Abstract

Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garrod gave evidence for the dynamic nature of metabolism by showing involvement of normal metabolites in normal pathways made variant by Mendelian inheritance. His concepts and evidence were salient primarily among biochemists, controversial among geneticists because biometricians were dominant over Mendelists, and least salient among physicians who were not attracted to rare hereditary 'traits'. In 2008, at the centennial of Garrod's Croonian Lectures, each charter inborn error of metabolism has acquired its own genomic locus, a cloned gene, a repertoire of annotated phenotype-modifying alleles, a gene product with known structure and function, and altered function in the Mendelian variant.

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Year:  2008        PMID: 18850300     DOI: 10.1007/s10545-008-0984-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  78 in total

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Journal:  Proc Natl Acad Sci U S A       Date:  2007-05-14       Impact factor: 11.205

5.  From genotype to phenotype: systems biology meets natural variation.

Authors:  Philip N Benfey; Thomas Mitchell-Olds
Journal:  Science       Date:  2008-04-25       Impact factor: 47.728

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

7.  The molecular basis of alkaptonuria.

Authors:  J M Fernández-Cañón; B Granadino; D Beltrán-Valero de Bernabé; M Renedo; E Fernández-Ruiz; M A Peñalva; S Rodríguez de Córdoba
Journal:  Nat Genet       Date:  1996-09       Impact factor: 38.330

8.  A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.

Authors:  Y Suzuki; K Oda; Y Yoshikawa; Y Maeda; T Suzuki
Journal:  J Hum Genet       Date:  1999       Impact factor: 3.172

9.  Alkaptonuria in the Trencín District of Czechoslovakia.

Authors:  S Srsen; F Cisárik; L Pásztor; L Harmecko
Journal:  Am J Med Genet       Date:  1978

10.  The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article].

Authors:  Archibald E Garrod
Journal:  Yale J Biol Med       Date:  2002 Jul-Aug
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  12 in total

Review 1.  Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors:  Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal:  Antioxid Redox Signal       Date:  2011-04-10       Impact factor: 8.401

Review 2.  Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.

Authors:  Giovanni Merolla; Arpit C Dave; Francesco Pegreffi; Lorenza Belletti; Giuseppe Porcellini
Journal:  Musculoskelet Surg       Date:  2012-03-24

3.  Nine cases of Alkaptonuria in one family in southern Jordan.

Authors:  Mohammed Al-Sbou; Nesrin Mwafi
Journal:  Rheumatol Int       Date:  2010-12-03       Impact factor: 2.631

4.  Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Authors:  Sarah B Pierce; Cailyn H Spurrell; Jessica B Mandell; Ming K Lee; Sharon Zeligson; Michael S Bereman; Sunday M Stray; Siv Fokstuen; Michael J MacCoss; Ephrat Levy-Lahad; Mary-Claire King; Arno G Motulsky
Journal:  Proc Natl Acad Sci U S A       Date:  2011-10-31       Impact factor: 11.205

5.  Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

Authors:  Mohammed Al-sbou
Journal:  Rheumatol Int       Date:  2011-03-25       Impact factor: 2.631

Review 6.  Alkaptonuria.

Authors:  Jemma B Mistry; Marwan Bukhari; Adam M Taylor
Journal:  Rare Dis       Date:  2013-12-18

7.  Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

Authors:  Marcus J Miller; Adam D Kennedy; Andrea D Eckhart; Lindsay C Burrage; Jacob E Wulff; Luke A D Miller; Michael V Milburn; John A Ryals; Arthur L Beaudet; Qin Sun; V Reid Sutton; Sarah H Elsea
Journal:  J Inherit Metab Dis       Date:  2015-04-15       Impact factor: 4.982

8.  Alkaptonuria, more than just a mere disease.

Authors:  Abdul Qayyum Rana; Usman Saeed; Ismael Abdullah
Journal:  J Neurosci Rural Pract       Date:  2015 Apr-Jun

9.  A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum.

Authors:  Husam M F Masoud; Hussam H Alhawari; Nosibah T Alryalat; Muayyad M Murshidi; Mujalli M Murshidi
Journal:  Int J Surg Case Rep       Date:  2017-07-25

10.  Lower urinary tract symptoms and prostatic calculi: A rare presentation of alkaptonuria.

Authors:  F K Sridhar; R P Mukha; S Kumar; N S Kekre
Journal:  Indian J Urol       Date:  2012-04
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