2,4-dienoyl-coa Reductase Deficiency; Decrd

Description

DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

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
  • Blindness
  • Hypertonia

And another 24 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.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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

Panel Name, Specifity and genes Tested/covered
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH (Germany).

BCS1L, SCO2, SCP2, AIMP1, SDHA, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SOX10, SPG11, STX11, STXBP2, SUCLA2, SURF1, ACOX1, TREX1, TUFM, TYROBP, MCOLN1 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Invitae Fatty Acid Oxidation Defects Panel.

By Invitae (United States).

SLC22A5, SLC25A20, CPT1A, CPT2, NADK2, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, MLYCD, ACADM, ACADS, ACADSB, ACADVL
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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