Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jun;98(6):454-61.
doi: 10.1136/archdischild-2012-303131. Epub 2013 Mar 26.

Drug treatment of inborn errors of metabolism: a systematic review

Majid Alfadhel  1 , Khalid Al-Thihli, Hiba Moubayed, Wafaa Eyaid, Majed Al-Jeraisy
Affiliations
Free PMC article

Drug treatment of inborn errors of metabolism: a systematic review

Majid Alfadhel et al. Arch Dis Child. 2013 Jun.
Free PMC article

Abstract

Background: The treatment of inborn errors of metabolism (IEM) has seen significant advances over the last decade. Many medicines have been developed and the survival rates of some patients with IEM have improved. Dosages of drugs used for the treatment of various IEM can be obtained from a range of sources but tend to vary among these sources. Moreover, the published dosages are not usually supported by the level of existing evidence, and they are commonly based on personal experience.

Methods: A literature search was conducted to identify key material published in English in relation to the dosages of medicines used for specific IEM. Textbooks, peer reviewed articles, papers and other journal items were identified. The PubMed and Embase databases were searched for material published since 1947 and 1974, respectively. The medications found and their respective dosages were graded according to their level of evidence, using the grading system of the Oxford Centre for Evidence-Based Medicine.

Results: 83 medicines used in various IEM were identified. The dosages of 17 medications (21%) had grade 1 level of evidence, 61 (74%) had grade 4, two medications were in level 2 and 3 respectively, and three had grade 5.

Conclusions: To the best of our knowledge, this is the first review to address this matter and the authors hope that it will serve as a quickly accessible reference for medications used in this important clinical field.

Keywords: IEM; Inborn errors of metabolism; dosage; evidence based medicine; treatment.

PubMed Disclaimer

References

    1. Scriver CR. The metabolic and molecular bases of inherited disease. 8th edn New York; London: McGraw-Hill, 2001
    1. Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. Mol Genet Metab 2008;95:11–16 - PubMed
    1. Wilcken B. Rare diseases and the assessment of intervention: what sorts of clinical trials can we use? J Inherit Metab Dis 2001;24:291–8 - PubMed
    1. Winter SC. Treatment of carnitine deficiency. J Inherit Metab Dis 2003;26:171–80 - PubMed
    1. Fernandes J, Saudubray JM, Van den Berghe G. Inborn metabolic diseases: diagnosis and treatment. 3rd rev. edn Berlin; New York; London: Springer, 2000

Publication types

MeSH terms