2,4-Dienoyl-CoA reductase deficiency

Other Names: 2,4-Dienoyl-CoA reductase deficiency, Dienoyl-CoA reductase deficiency See more

Categories: Newborn Screening

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Description

2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.

Source: GARD Last updated on 05-01-20

Newborn Screening

2,4-alpha dienoyl-CoA reductase deficiency

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: FOD (Fatty Oxidation Disorder) Family Support Group P.O. Box 54
Okemos, MI, 48805-0054, United States Phone: +1-517-381-1940 [8am - 8pm EST every day] Fax : +1-866-290-5206 Email: deb@fodsupport.org Url: https://fodsupport.org/

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2,4-Dienoyl-CoA reductase deficiency

Table of Contents

Description

Newborn Screening

2,4-alpha dienoyl-CoA reductase deficiency

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2,4-Dienoyl-CoA reductase deficiency

Table of Contents

Description

Resources

Newborn Screening

2,4-alpha dienoyl-CoA reductase deficiency

Organizations

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