2,4-Dienoyl-Coa Reductase Deficiency (DECRD)

Alias:
Progressive Encephalopathy with Leukodystrophy Due to Decr Deficiency
Decr Deficiency with Hyperlysinemia
Decrd
2,4 Dienoyl-Coa Reductase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
2,4-Dienoyl-Coa Reductase Deficiency, also known as progressive encephalopathy with leukodystrophy due to decr deficiency, is related to visceral steatosis, congenital and fatty liver disease 1, and has symptoms including muscle spasticity and seizures. An important gene associated with 2,4-Dienoyl-Coa Reductase Deficiency is NADK2 (NAD Kinase 2, Mitochondrial), and among its related pathways/superpathways is Metabolism. Affiliated tissues include eye and liver, and related phenotypes are seizure and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
3
15
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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