DECRD
MCID: 24D001
MIFTS: 34

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

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 2,4-Dienoyl-Coa Reductase Deficiency

MalaCards integrated aliases for 2,4-Dienoyl-Coa Reductase Deficiency:

Name: 2,4-Dienoyl-Coa Reductase Deficiency 56 52 58 73 36 29 6 39 71
Decrd 56 73
Progressive Encephalopathy with Leukodystrophy Due to Decr Deficiency 58
2,4-Alpha Dienoyl-Coa Reductase Deficiency 52
Decr Deficiency with Hyperlysinemia 58
Dienoyl-Coa Reductase Deficiency 52

Characteristics:

Orphanet epidemiological data:

58
progressive encephalopathy with leukodystrophy due to decr deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
death in early childhood may occur
onset in the neonatal period or early infancy
lysine restriction may be beneficial
one patient with a very mild phenotype without encephalopathy has been reported (last curated march 2020)


HPO:

31
2,4-dienoyl-coa reductase deficiency:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for 2,4-Dienoyl-Coa Reductase Deficiency

OMIM : 56 2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018). (616034)

MalaCards based summary : 2,4-Dienoyl-Coa Reductase Deficiency, also known as decrd, is related to hyperlysinemia, type i and lactic acidosis, and has symptoms including seizures and muscle spasticity. An important gene associated with 2,4-Dienoyl-Coa Reductase Deficiency is NADK2 (NAD Kinase 2, Mitochondrial), and among its related pathways/superpathways is Nicotinate and nicotinamide metabolism. Affiliated tissues include eye, and related phenotypes are global developmental delay and microcephaly

NIH Rare Diseases : 52 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.

KEGG : 36 Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. A causal mutation in NADK2, that encodes the mitochondrial NAD kinase, has been revealed.

UniProtKB/Swiss-Prot : 73 2,4-dienoyl-CoA reductase deficiency: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia.

Wikipedia : 74 2,4 Dienoyl-CoA reductase also known as DECR1 is an enzyme which in humans is encoded by the DECR1 gene... more...

Related Diseases for 2,4-Dienoyl-Coa Reductase Deficiency

Diseases related to 2,4-Dienoyl-Coa Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 hyperlysinemia, type i 29.1 NADK2 DECR1 AASS
2 lactic acidosis 10.4
3 fatty liver disease, nonalcoholic 1 10.4
4 hypoglycemia 10.4
5 hyperprolinemia, type i 9.3 NADK2 DECR1
6 multiple acyl-coa dehydrogenase deficiency 9.2 NADK2 DECR1

Graphical network of the top 20 diseases related to 2,4-Dienoyl-Coa Reductase Deficiency:



Diseases related to 2,4-Dienoyl-Coa Reductase Deficiency

Symptoms & Phenotypes for 2,4-Dienoyl-Coa Reductase Deficiency

Human phenotypes related to 2,4-Dienoyl-Coa Reductase Deficiency:

58 31 (showing 34, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
3 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
9 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
10 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
11 progressive spastic quadriplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002478
12 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
13 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
14 pancreatitis 58 31 frequent (33%) Frequent (79-30%) HP:0001733
15 renal tubular acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001947
16 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
17 organic aciduria 58 31 frequent (33%) Frequent (79-30%) HP:0001992
18 central sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010536
19 abnormal basal ganglia mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012751
20 progressive encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002448
21 decreased plasma carnitine 58 31 frequent (33%) Frequent (79-30%) HP:0003234
22 nonprogressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002470
23 hyperlysinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002161
24 decreased activity of nadph oxidase 58 31 frequent (33%) Frequent (79-30%) HP:0003206
25 stress/infection-induced lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0004897
26 seizure 31 frequent (33%) HP:0001250
27 seizures 58 Frequent (79-30%)
28 spasticity 31 HP:0001257
29 encephalopathy 31 HP:0001298
30 cerebral atrophy 31 HP:0002059
31 tetraplegia 31 HP:0002445
32 abnormal involuntary eye movements 58 Frequent (79-30%)
33 abnormality of carnitine metabolism 58 Frequent (79-30%)
34 decreased plasma free carnitine 31 HP:0008315

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dystonia
cerebellar atrophy
more
Head And Neck Eyes:
optic atrophy
nystagmus
ophthalmoplegia
hypermetropia
cortical blindness
more
Laboratory Abnormalities:
hyperlysinemia
decreased plasma free carnitine
increased lactate
increased c10:2-carnitine
increased pipecolic acid
more
Head And Neck Head:
microcephaly

Growth Other:
failure to thrive
intrauterine growth retardation

Clinical features from OMIM:

616034

UMLS symptoms related to 2,4-Dienoyl-Coa Reductase Deficiency:


seizures, muscle spasticity

Drugs & Therapeutics for 2,4-Dienoyl-Coa Reductase Deficiency

Search Clinical Trials , NIH Clinical Center for 2,4-Dienoyl-Coa Reductase Deficiency

Genetic Tests for 2,4-Dienoyl-Coa Reductase Deficiency

Genetic tests related to 2,4-Dienoyl-Coa Reductase Deficiency:

# Genetic test Affiliating Genes
1 2,4-Dienoyl-Coa Reductase Deficiency 29 NADK2

Anatomical Context for 2,4-Dienoyl-Coa Reductase Deficiency

MalaCards organs/tissues related to 2,4-Dienoyl-Coa Reductase Deficiency:

40
Eye

Publications for 2,4-Dienoyl-Coa Reductase Deficiency

Articles related to 2,4-Dienoyl-Coa Reductase Deficiency:

(showing 6, show less)
# Title Authors PMID Year
1
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. 61 56 6
29388319 2018
2
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. 56 6
27940755 2016
3
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. 6 56
24847004 2014
4
2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. 56
2332510 1990
5
Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesis. 61
19578400 2009
6
[2,4-Dienoyl-CoA reductase deficiency]. 61
9590086 1998

Variations for 2,4-Dienoyl-Coa Reductase Deficiency

ClinVar genetic disease variations for 2,4-Dienoyl-Coa Reductase Deficiency:

6 (showing 20, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NADK2 NM_001085411.3(NADK2):c.956+6T>CSNV Pathogenic 830231 5:36207266-36207266 5:36207164-36207164
2 NADK2 NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter)SNV Pathogenic 156239 rs587777772 5:36200377-36200377 5:36200275-36200275
3 NADK2 NM_001085411.3(NADK2):c.349A>G (p.Ile117Val)SNV Conflicting interpretations of pathogenicity 715274 5:36227619-36227619 5:36227517-36227517
4 NADK2 NM_001085411.3(NADK2):c.450A>G (p.Arg150=)SNV Uncertain significance 844396 5:36226605-36226605 5:36226503-36226503
5 NADK2 NM_001085411.3(NADK2):c.52G>A (p.Gly18Ser)SNV Uncertain significance 859478 5:36241849-36241849 5:36241747-36241747
6 NADK2 NM_001085411.3(NADK2):c.1A>G (p.Met1Val)SNV Uncertain significance 453290 rs1277388010 5:36241900-36241900 5:36241798-36241798
7 NADK2 NM_001085411.3(NADK2):c.388C>T (p.Arg130Trp)SNV Uncertain significance 578808 rs779870872 5:36227580-36227580 5:36227478-36227478
8 DECR1 NM_001359.2(DECR1):c.202G>A (p.Gly68Ser)SNV Uncertain significance 638468 8:91029484-91029484 8:90017256-90017256
9 NADK2 NM_001085411.3(NADK2):c.561G>A (p.Arg187=)SNV Uncertain significance 640415 5:36219781-36219781 5:36219679-36219679
10 NADK2 NM_001085411.3(NADK2):c.99_100delinsAT (p.Arg34Trp)indel Uncertain significance 658874 5:36241801-36241802 5:36241699-36241700
11 NADK2 NM_001085411.3(NADK2):c.48G>A (p.Ala16=)SNV Uncertain significance 664623 5:36241853-36241853 5:36241751-36241751
12 NADK2 NM_001085411.3(NADK2):c.560+9G>TSNV Likely benign 516561 rs202012633 5:36225635-36225635 5:36225533-36225533
13 NADK2 NM_001085411.3(NADK2):c.864T>C (p.Ala288=)SNV Likely benign 534665 rs201029604 5:36207364-36207364 5:36207262-36207262
14 DECR1 NM_001359.2(DECR1):c.77G>A (p.Ser26Asn)SNV Likely benign 534666 rs145323335 8:91029359-91029359 8:90017131-90017131
15 NADK2 NM_001085411.3(NADK2):c.615C>A (p.Ala205=)SNV Likely benign 736942 5:36219727-36219727 5:36219625-36219625
16 NADK2 NM_001085411.3(NADK2):c.1225A>G (p.Met409Val)SNV Likely benign 798229 5:36195350-36195350 5:36195248-36195248
17 NADK2 NM_001085411.3(NADK2):c.258G>A (p.Arg86=)SNV Benign 380097 rs6891700 5:36241643-36241643 5:36241541-36241541
18 NADK2 NM_001085411.3(NADK2):c.1104G>A (p.Pro368=)SNV Benign 380573 rs79189380 5:36197729-36197729 5:36197627-36197627
19 NADK2 NM_001085411.3(NADK2):c.210G>T (p.Arg70=)SNV Benign 380096 rs189482969 5:36241691-36241691 5:36241589-36241589
20 NADK2 NM_001085411.3(NADK2):c.438A>C (p.Glu146Asp)SNV Benign 791998 5:36226617-36226617 5:36226515-36226515

Expression for 2,4-Dienoyl-Coa Reductase Deficiency

Search GEO for disease gene expression data for 2,4-Dienoyl-Coa Reductase Deficiency.

Pathways for 2,4-Dienoyl-Coa Reductase Deficiency

Pathways related to 2,4-Dienoyl-Coa Reductase Deficiency according to KEGG:

36 (showing 1, show less)
# Name Kegg Source Accession
1 Nicotinate and nicotinamide metabolism hsa00760

GO Terms for 2,4-Dienoyl-Coa Reductase Deficiency

Cellular components related to 2,4-Dienoyl-Coa Reductase Deficiency according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 NADK2 DECR1 AASS
2 mitochondrial matrix GO:0005759 8.8 NADK2 DECR1 AASS

Biological processes related to 2,4-Dienoyl-Coa Reductase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 DECR1 AASS

Molecular functions related to 2,4-Dienoyl-Coa Reductase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 DECR1 AASS

Sources for 2,4-Dienoyl-Coa Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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33 ICD10 via Orphanet
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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