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peroxisomal acyl-CoA oxidase deficiency
ICD-10 Codes
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Description
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders [2]. It is characterized by the deterioration of nervous system functions (neurodegeneration) beginning in infancy [1, 3].
The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids [8]. Clinically, it is characterized by neonatal hypotonia, seizures, and other severe symptoms [8].
This condition is caused by a deficiency in peroxisomal acyl-CoA oxidase, an enzyme responsible for breaking down fatty acids in peroxisomes. As a result, the accumulation of toxic very long-chain fatty acids leads to neurodegeneration and other systemic problems.
Peroxisomal acyl-CoA oxidase deficiency is often referred to as pseudo-neonatal adrenoleukodystrophy or pseudoadrenoleukodystrophy [6]. It is an autosomal recessive inborn error of peroxisomal fatty acid oxidation, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [5].
The symptoms and progression of peroxisomal acyl-CoA oxidase deficiency can vary widely among affected individuals. However, early diagnosis and treatment are crucial for managing the condition and slowing down its progression.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [5] Context result 5 [6] Context result 6 [8] Context result 8
Additional Characteristics
- fatty acids
- seizures
- Peroxisomal acyl-CoA oxidase deficiency
- neurodegenerative disorder
- inherited peroxisomal disorders
- neonatal hypotonia
- very long-chain fatty acids
- peroxisomes
- autosomal recessive inborn error of peroxisomal fatty acid oxidation
- pseudo-neonatal adrenoleukodystrophy
- pseudoadrenoleukodystrophy
Signs and Symptoms
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders.
Common symptoms:
- Hearing and vision loss [12]
- Hypotonia (low muscle tone) [13, 14]
- Neurological issues [13]
- Seizures [13, 14]
- Developmental delay [13]
- Feeding issues [13]
Severe symptoms:
- Exaggerated reflexes (hyperreflexia) and increased muscle tone (hypertonia) as the condition gets worse [10, 11]
- Intellectual disability
- Leukodystrophy
- Hepatomegaly (enlarged liver)
- Hearing deficit
- Facial abnormalities, such as widely spaced eyes, low nasal bridge, and low set ears [14]
Progression of symptoms:
The condition progresses to severe symptoms over time, affecting various aspects of an individual's life. It is essential for early diagnosis and treatment to manage the symptoms effectively.
Note: The information provided is based on the search results and may not be a comprehensive list of all possible symptoms.
Additional Symptoms
- Seizures
- Intellectual disability
- Neurological issues
- Leukodystrophy
- Developmental delay
- Facial abnormalities
- Hepatomegaly (enlarged liver)
- Hypotonia (low muscle tone)
- Feeding issues
- Exaggerated reflexes (hyperreflexia) and increased muscle tone (hypertonia)
- Hearing deficit
- loss of vision
Diagnostic Tests
Peroxisomal acyl-CoA oxidase deficiency is a rare genetic disorder that affects the body's ability to break down fatty acids, leading to a range of clinical features.
Diagnostic tests for peroxisomal acyl-CoA oxidase deficiency:
- Biochemical testing: A very long-chain fatty acid (VLCFA) test can help establish a diagnosis. This test measures the levels of VLCFAs in the blood and is often consistent with peroxisomal disorders [2].
- Genetic testing: Molecular testing can confirm biochemical findings and identify the specific genetic defect, usually utilizing a multiple-gene panel or exome/genome approach [8]. The Genetic Testing Registry lists Acyl-CoA oxidase as a gene associated with this disorder [4].
- Peroxisomal Disorders Panel: This panel is designed to detect mutations in genes associated with peroxisomal disorders, including ACOX1. It may be used as a supplementary test to confirm the diagnosis [5].
Additional tests and considerations:
- No single test is sufficient to diagnose all peroxisomal disorders, including acyl-CoA oxidase deficiency. Additional testing, such as sequencing of the ACOX1 gene, may be necessary to confirm the diagnosis [6].
- Blood draws can be used to check for biochemical markers of peroxisomal disorders and to confirm the diagnosis through additional testing [9].
Clinical genetic tests:
- DNA Labs India offers a clinical genetic test for conditions associated with hereditary diseases, including ACOX1. This test includes sequencing of the gene and may be used as part of a diagnostic workup [7].
Additional Diagnostic Tests
- Genetic testing
- Peroxisomal Disorders Panel
- Biochemical testing
- Sequencing of the ACOX1 gene
Treatment
Treatment Options for Peroxisomal Acyl-CoA Oxidase Deficiency
Peroxisomal acyl-CoA oxidase deficiency is a rare genetic disorder that affects the breakdown of fatty acids in the body. While there
Recommended Medications
- No specific drug treatment has been established for peroxisomal acyl-CoA oxidase deficiency.
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Peroxisomal Acyl-CoA Oxidase Deficiency
Peroxisomal acyl-CoA oxidase deficiency is a rare genetic disorder that affects the body's ability to break down fatty acids. The differential diagnosis for this condition includes several other peroxisomal disorders and diseases.
- D-bifunctional protein deficiency: This is the most frequently diagnosed single enzyme defect of peroxisomal fatty acid metabolism, and it can present with similar symptoms to acyl-CoA oxidase deficiency [3]. D-bifunctional protein deficiency is caused by a mutation in the HSD17B4 gene on chromosome 5q2.
- Zellweger syndrome (ZWS): Patients with ZWS have a phenotype that is similar to those with acyl-CoA oxidase deficiency, but they also exhibit dysmorphic features [3]. ZWS is caused by mutations in the PEX genes, which are responsible for peroxisome biogenesis.
- Peroxisomal biogenesis disorders: These disorders are caused by mutations in the PEX genes and can present with a range of symptoms, including hypotonia, hepatomegaly, and dysmorphic features [3].
- Usher syndrome: This is a genetic disorder that affects the eyes and ears, but it can also be associated with peroxisomal disorders. The differential diagnosis for Usher syndrome includes other peroxisomal diseases, such as acyl-CoA oxidase deficiency.
- Other peroxisomal diseases: These include conditions such as X-linked adrenoleukodystrophy (X-ALD), which is caused by mutations in the ABCD1 gene. X-ALD can present with similar symptoms to acyl-CoA oxidase deficiency, including hypotonia and hepatomegaly.
References:
- Wanders RJA et al. (2006) - For differential diagnosis, urinary glycolate and l-glycerate must be measured.
- Poll-The BT et al. (2012) - This article discusses the role of MRI findings in the clinical approach of peroxisomal disorders with neurological disease.
- Wanders RJA et al. (2019) - Acyl-CoA oxidase 1 plays a key role in the oxidation of VLCFAs but not other metabolites β-oxidized in peroxisomes, including pristanic acid and DHCA and THCA.
Note: The above information is based on the search results provided in the context.
Additional Differential Diagnoses
- Peroxisomal biogenesis disorders
- X-linked adrenoleukodystrophy (X-ALD)
- Usher syndrome
- D-bifunctional protein deficiency
- Zellweger syndrome
Additional Information
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