Isobutyryl-coa Dehydrogenase Deficiency

Description

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

Clinical Features

Top most frequent phenotypes and symptoms related to Isobutyryl-coa Dehydrogenase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Feeding difficulties
  • Delayed speech and language development
  • Cardiomyopathy
  • Atrial septal defect

And another 11 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.

Alternative names

Isobutyryl-coa Dehydrogenase Deficiency Is also known as ibd deficiency, acad8 deficiency, acyl-coa dehydrogenase family, member 8, deficiency of, isobutyric aciduria.

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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Isobutyryl-coa Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ACAD8 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACAD8
Specificity
100 %
Genes
100 %
ACAD8 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACAD8
Specificity
100 %
Genes
100 %
ACAD8 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACAD8
Specificity
100 %
Genes
100 %
ACAD8 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACAD8
Specificity
100 %
Genes
100 %
ACAD8 Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ACAD8
Specificity
100 %
Genes
100 %
ACAD8 Gene Sequencing.

By GeneDx (United States).

ACAD8
Specificity
100 %
Genes
100 %
ACAD8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ACAD8
Specificity
100 %
Genes
100 %

We have 22 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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