2,4-@DIENOYL-CoA REDUCTASE 1, MITOCHONDRIAL

General Information (adopted from Orphanet):

Synonyms, Signs: DECR1 2,4-&#64
DIENOYL-CoA REDUCTASE DEFICIENCY, INCLUDED
Number of Symptoms 8
OrphanetNr:
OMIM Id: 222745
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005972) Respiratory acidosis 3 / 7739
2
(HPO:0002161) Hyperlysinemia 7 / 7739
3
(HPO:0001319) Neonatal hypotonia 101 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Hypocarnitinemia 1 / 7739
6
(OMIM) Normal organic acids 1 / 7739
7
(OMIM) 2,4-dienoyl-coenzyme A reductase deficiency 1 / 7739
8
(OMIM) 2-trans,4-cis-decadienoylcarnitine in both urine and blood 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a black female infant presenting in the neonatal period with persistent hypotonia, Roe et al. (1990) found deficiency of 2,4-dienoyl-coenzyme A reductase. Biochemical studies had shown hyperlysinemia, hypocarnitinemia, a normal organic acid profile, and an unusual acylcarnitine ...