peroxisome biogenesis disorder 13A

Peroxisome Biogenesis Disorder 13A (Zellweger) Description

Peroxisome biogenesis disorder 13A, also known as Zellweger syndrome, is a rare genetic disorder that affects the formation and function of peroxisomes in the body. Peroxisomes are small organelles found in cells that play a crucial role in breaking down fatty acids and amino acids.

Characteristics

• Autosomal recessive: The condition is inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
• Disordered peroxisome biogenesis: The primary defect lies in the formation and function of peroxisomes, leading to a range of clinical symptoms.

Clinical Features

The condition is characterized by a complex spectrum of clinical phenotypes, including:

• Sensorineural hearing loss
• Pigmentary retinal degeneration
• Multiple organ dysfunction (e.g., liver, kidney, pancreas)
• Psychomotor impairment

These features typically result in shortened life spans.

Complementation Group K

Individuals with peroxisome biogenesis disorder 13A have mutations in the PEX14 gene, which is associated with complementation group K (CGK).

References

• Steinberg et al. (2006) [7] described the clinical features and genetic heterogeneity of Zellweger syndrome.
• The Genetic and Rare Diseases Information Center (GARD) provides information on peroxisome biogenesis disorder 13A, including its definition, symptoms, and related genes. [4]
• A comprehensive review by Steinberg et al. (2006) discussed the history of PBD complementation groups, including CGK. [10]

Synonyms

Peroxisome biogenesis disorder 13A is also known as Zellweger syndrome or peroxisome biogenesis disorder 13A (Zellweger).

Based on the available information, it appears that you are looking for signs and symptoms related to a specific type of peroxisome biogenesis disorder, which is designated as "13A".

Unfortunately, I couldn't find any direct reference to "peroxisome biogenesis disorder 13A" in the provided context. However, I can provide some general information on peroxisome biogenesis disorders and their symptoms.

Peroxisome biogenesis disorders (PBDs) are a group of rare genetic conditions characterized by impaired function of peroxisomes, which are organelles responsible for various cellular processes [6]. The symptoms of PBDs can vary depending on the specific disorder, but they often include:

• Neurological defects, such as seizures and developmental delays [7]
• Craniofacial anomalies, including a flattened face, broad nasal bridge, high forehead, and eye abnormalities [2], [8]
• Reduced number of intrahepatic bile ducts, leading to impaired liver function [3]

It's essential to note that the specific symptoms and severity of PBDs can differ significantly from one individual to another.

If you have any further questions or would like more information on a specific aspect of peroxisome biogenesis disorders, please let me know.

Diagnostic Tests for Peroxisome Biogenesis Disorder 13A (Zellweger)

Peroxisome biogenesis disorder 13A, also known as Zellweger syndrome, is a rare genetic disorder that affects the development and function of peroxisomes in the body. Diagnostic tests are essential to confirm the presence of this condition.

Blood Tests

• Biochemical studies performed in blood can help screen for PBD by detecting increased levels of long-chain fatty acids and hypoketotic dicarboxylic aciduria [7].
• These tests can also identify other metabolic abnormalities associated with PBD [8].

Genetic Testing

• DNA testing is possible for all types of peroxisomal biogenesis disorders, including Zellweger syndrome.
• Genetic testing can confirm the presence of mutations in the PEX14 gene, which is responsible for this condition [2].
• Next-generation sequencing (NGS) tests, such as those offered by Bioarray and Intergen, analyze multiple genes involved in peroxisomal biogenesis disorders and single protein defects [3].

Other Diagnostic Tests

• Metabolic screening can help identify other metabolic abnormalities associated with PBD.
• Imaging studies may be performed to rule out other conditions that may present similarly.

It's essential to consult a genetic counselor or a healthcare professional for accurate diagnosis and guidance on the best diagnostic tests for peroxisome biogenesis disorder 13A.

Peroxisome biogenesis disorder 13A (Zellweger) is a rare genetic disorder that affects the formation of functional peroxisomes in the body. While there are no specific treatments mentioned for this condition, orphan drugs may be utilized to treat it.

According to search results [1], [2], peroxisome biogenesis disorders, including Zellweger syndrome, benefit from treatment with orphan drugs that utilize known compounds, some of which are FDA approved. However, please consult with a healthcare professional for medical advice and treatment [3].

It's worth noting that the use of fish oil and myelin has been explored as a potential treatment option for children with disorders of peroxisome biogenesis, although this is still an area of cautious optimism [6].

Peroxisome Biogenesis Disorder 13A (Zellweger) Differential Diagnosis

Peroxisome biogenesis disorder 13A, also known as Zellweger syndrome, is a rare genetic disorder that affects the formation of peroxisomes in cells. The differential diagnosis for this condition involves ruling out other disorders that may present similar symptoms.

Other Disorders to Consider:

• Rhizomelic Chondrodysplasia Punctata (RCDP): This is another type of peroxisome biogenesis disorder that can cause similar symptoms, including skeletal abnormalities and liver dysfunction. [1]
• Neonatal Adrenoleukodystrophy: This is a rare genetic disorder that affects the breakdown of fatty acids in the body, leading to neurological symptoms and liver dysfunction. [2]
• Infantile Refsum Disease: This is a rare genetic disorder that affects the metabolism of very-long-chain fatty acids, leading to neurological symptoms and liver dysfunction. [3]

Key Differences:

• Age of Onset: Zellweger syndrome typically presents in infancy or early childhood, while RCDP and neonatal adrenoleukodystrophy may present later in life.
• Skeletal Abnormalities: RCDP is characterized by skeletal abnormalities, including shortening of the limbs (rhizomelia) and punctate calcifications in the cartilage. [4]
• Liver Dysfunction: All three disorders can cause liver dysfunction, but Zellweger syndrome typically presents with more severe liver disease.

Diagnostic Criteria:

The diagnosis of peroxisome biogenesis disorder 13A (Zellweger) is based on a combination of clinical features, biochemical findings, and genetic testing. The diagnostic criteria include:

• Clinical Features: Severe neurological dysfunction, craniofacial abnormalities, and liver dysfunction.
• Biochemical Findings: Elevated levels of very-long-chain fatty acids in the blood and urine.
• Genetic Testing: Identification of mutations in the PEX1, PEX2, or PEX6 genes.

References:

[1] Steinberg et al. (2006) - Cited by 612

[2] Orphanet (2021) - Prevalence, inheritance and age of onset: Disease classification

[3] Orphanet (2021) - General Information (adopted from Orphanet): Prevalence, inheritance and age of onset: Disease classification

[4] Orphanet (2021) - PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A