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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

Additional Information

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