Pseudoneonatal adrenoleukodystrophy

Title

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

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

This disease is grouped under:

Disorder of peroxisomal alpha-, beta- and omega-oxidation; Disorders with deficiency of a single peroxisomal enzyme; Peroxisomal beta-oxidation disorder; Disorder of peroxisomal alpha-, beta- and omega-oxidation; Disorders with deficiency of a single peroxisomal enzyme; Peroxisomal beta-oxidation disorder; Peroxisome disorders See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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: 2/4/2010

Symptoms Symptoms

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
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Abnormality of nervous system morphology	Abnormal shape of nervous system	0012639
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
Seizures	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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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

Organizations Organizations

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

Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: contact@aiunited.org
Website: http://aiunited.org/
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: info@alextlc.org
Website: https://www.alextlc.org

Organizations Providing General Support

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

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