National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pseudoneonatal adrenoleukodystrophy


Other Names:
Peroxisomal Acyl-CoA oxidase deficiency; Straight-chain Acyl-CoA oxidase deficiency; Pseudo-neonatal adrenoleukodystrophy; Peroxisomal Acyl-CoA oxidase deficiency; Straight-chain Acyl-CoA oxidase deficiency; Pseudo-neonatal adrenoleukodystrophy; Pseudoadrenoleukodystrophy See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2971

Definition
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.

Epidemiology
Acyl-CoA oxidase deficiency is a rare disease with only 30-40 patients identified world-wide so far.

Clinical description
The disease manifests in the neonatal period with hypotonia (92%) and seizures (91%) as dominant features. Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly. Psychomotor development is delayed, but children are usually able to walk and say a few words. However, neurological regression occurs usually at the age of 1-3 years (mean age: 28 months). Hypotonia is replaced by hypertonia with hyperreflexia. Epilepsy may become more severe and sensorineural hearing loss may appear. Strabismus, nystagmus, and optic atrophy can also occur.

Etiology
Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene (17q25.1) encoding peroxisomal straight-chain acyl-CoA oxidase.

Diagnostic methods
Diagnosis is based on laboratory studies revealing increased serum very-long chain fatty acids (VLCFA) and markedly reduced acyl-CoA oxidase activity in fibroblasts. MRI examination of the brain shows abnormal white matter signals. Diagnosis can be confirmed by the presence of mutations in the ACOX1 gene.

Differential diagnosis
Differential diagnoses include Usher syndrome (see this term) and all causes of neonatal hypotonia. The other peroxisomal disorders should also be discarded, especially neonatal adrenoleukodystrophy (see this term), which presents similar clinical manifestations.

Antenatal diagnosis
Antenatal diagnosis is possible through biochemical and/or molecular analysis of amniocytes or chorionic villus cells.

Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to the families of patients.

Management and treatment
No specific treatment is available. Multidisciplinary supportive care should be offered.

Prognosis
Prognosis is unfavorable; death usually occurs at around 5 years from respiratory issues.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2010

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram 0000512
Abnormal nervous system morphology
Abnormal shape of nervous system
0012639
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ] 		0001939
Abnormality of visual evoked potentials 0000649
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
EEG abnormality 0002353
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Global developmental delay 0001263
Hyperreflexia
Increased reflexes
0001347
Hypodontia
Failure of development of between one and six teeth
0000668
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Muscular hypotonia
Low or weak muscle tone
0001252
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Seizure 0001250
Sensorineural hearing impairment 0000407
30%-79% of people have these symptoms
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Hepatomegaly
Enlarged liver
0002240
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy 0000648
Respiratory insufficiency
Respiratory impairment
0002093
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
5%-29% of people have these symptoms
Hand polydactyly
Extra finger
0001161
Hypertonia 0001276
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Babinski sign 0003487
Bilateral sensorineural hearing impairment 0008619
Brachycephaly
Short and broad skull
0000248
CNS demyelination 0007305
Decreased light- and dark-adapted electroretinogram amplitude 0000654
Diffuse hepatic steatosis 0006555
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Dystonia 0001332
Elevated hepatic transaminase
High liver enzymes
0002910
Frontal bossing 0002007
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation
[ more ] 		0006887
Inverted nipples 0003186
Irritability
Irritable
0000737
Leukodystrophy 0002415
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
No social interaction 0008763
Pigmentary retinopathy 0000580
Rod-cone dystrophy 0000510
Severe global developmental delay 0011344
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Pseudoneonatal adrenoleukodystrophy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Pseudoneonatal adrenoleukodystrophy:
    Myelin Disorders Bioregistry Project
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Pseudoneonatal adrenoleukodystrophy. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudoneonatal adrenoleukodystrophy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.