2,4-dienoyl-coa Reductase Deficiency; Decrd

Description

Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.

Clinical Features

Top most frequent phenotypes and symptoms related to 2,4-dienoyl-coa Reductase Deficiency; Decrd

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Failure to thrive
  • Spasticity
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
And another 38 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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2,4-dienoyl-coa Reductase Deficiency; Decrd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CoA-2 4-dienoyl reductase 1 deficiency (sequence analysis of DECR1 gene).

By CGC Genetics in Portugal.

DECR1
Specificity
100 %
Genes
50 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, TAZ, LPIN1, CPT1A, MLYCD, ETFB, ETFA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
CoA-2 4-dienoyl reductase 1 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

DECR1
Specificity
100 %
Genes
50 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
DECR1.

By Fulgent Genetics Fulgent Genetics in United States.

DECR1
Specificity
100 %
Genes
50 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
50 %
Invitae Fatty Acid Oxidation Defects Panel.

By Invitae in United States.

ACADM, ACADS, ACADVL, CPT2, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, CPT1A, MLYCD, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH, NADK2
Specificity
6 %
Genes
50 %

Alternate names

2,4-dienoyl-coa Reductase Deficiency; Decrd Is also known as ;2,4-dienoyl-coa reductase deficiency; decr deficiency with hyperlysinemia.



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