Peroxisomal Acyl-coa Oxidase Deficiency

Description

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

Clinical Features

Top most frequent phenotypes and symptoms related to Peroxisomal Acyl-coa Oxidase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment
  • Muscular hypotonia

And another 55 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

Peroxisomal Acyl-coa Oxidase Deficiency Is also known as pseudoneonatal adrenoleukodystrophy, pseudo-neonatal adrenoleukodystrophy, pseudo-nald, pseudoadrenoleukodystrophy, straight-chain acyl-coa oxidase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Peroxisomal Acyl-coa Oxidase Deficiency extracted from public data.

Peroxisomal Acyl-coa Oxidase Deficiency Experts map



Current Researchs and researchers

  • DIJON — Pr Stéphane SAVARY

    Investigator of research project

    • Institution/s:
      — Université de Bourgogne
    • Research area/topic::

      Novel CRISPR-mediated mutant microglial cell models to better understand the physiopathogenesis of peroxisomal leukodystrophies and identify novel therapeutic targets by NGS RNAseq



Mendelian

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Peroxisomal Acyl-coa Oxidase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Peroxisomal Beta-Oxidation Defects NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, HSD17B4
Specificity
34 %
Genes
100 %
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, PEX26, DNM1L, HSD17B4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
7 %
Genes
100 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, CAT, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, TRIM37, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SCP2, ACOX1, CAT, GDAP1, PEX26, MFF, FAR1, DNM1L, PEX5L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11A, PEX11B , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Peroxisomal disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SCP2, ACOX1, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
ACOX1. Complete sequencing.

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

ACOX1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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