pubmed.ncbi.nlm.nih.gov

Inborn errors of metabolism in the 21st century: past to present - PubMed

Review

Inborn errors of metabolism in the 21st century: past to present

Georgianne L Arnold. Ann Transl Med. 2018 Dec.

Abstract

The 21st century is an exciting time to be in the field of metabolic medicine. As with many fields, one of the keys to anticipating the future is to understand the past. The term "inborn error of metabolism" was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, cystinuria and albinism). The first (and still most definitive) textbook on the subject, "The Metabolic Basis of Inherited Disease" was initially published in 1960 and covered 80 disorders in 1,477 pages. After the eighth edition of this text became unwieldy at 6,338 pages in 4 volumes covering more than 1,000 disorders, the book was changed to an online reference text with 259 chapters and is still growing. Current newborn screening on a few dried blood spots on filter paper identifies more than 1 in 2,000 newborns as having a metabolic disorder. The availability of metabolomic and genomic analyses is resulting in the diagnosis of many new disorders. Enzyme replacement therapy (ERT) has provided treatments for previously untreatable metabolic disorders, and the promise of gene therapy on the near horizon will certainly revolutionize the field.

Keywords: Inborn error of metabolism; enzyme replacement therapy; gene therapy; newborn screening.

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: The author has no conflicts of interest to declare.

Similar articles

Cited by

References

    1. Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Yale J Biol Med 2002;75:221-31. - PMC - PubMed
    1. Paul DB. Patient advocacy in newborn screening: continuities and discontinuities. Am J Med Genet C Semin Med Genet 2008;148C:8-14. 10.1002/ajmg.c.30166 - DOI - PubMed
    1. Følling I. The discovery of phenylketonuria. Acta Paediatr Suppl 1994;407:4-10. 10.1111/j.1651-2227.1994.tb13440.x - DOI - PubMed
    1. Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953;265:812-13. 10.1016/S0140-6736(53)90473-5 - DOI - PubMed
    1. Guthrie R, Susi A. A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants. Pediatrics 1963;32:338-43. - PubMed

Publication types