peroxisome biogenesis disorder 12A

Peroxisome biogenesis disorder 12A (PBD12A) is a subtype of Zellweger spectrum disorder, which is a group of autosomal recessive disorders affecting the formation of functional peroxisomes. PBD12A is caused by dysfunction in the PEX19 gene, leading to impaired catabolism and detoxification of various compounds.

Characteristics of PBD12A include:

• Impaired peroxisome biogenesis
• Dysfunction in the PEX19 gene
• Absence of peroxisomes impairs catabolism and detoxification of various compounds

PBD12A is a rare genetic disorder that affects the formation of peroxisomes, which are essential for cellular function. The absence or dysfunction of peroxisomes leads to accumulation of toxic substances in the body, resulting in severe health complications.

According to [6], PBD12A is a subtype of Zellweger spectrum disorder and is caused by PEX19 dysfunction. This information highlights the genetic basis of PBD12A and its relationship with other peroxisome biogenesis disorders.

Additionally, according to [9], PBD12A is also known as Zellweger syndrome, which further emphasizes its connection to this broader group of disorders.

References: [6] - PBD-ZSS is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary ... [9] - peroxisome biogenesis disorder 12A. Term ID: DOID:0080486; Synonyms. peroxisome biogenesis disorder 12A (Zellweger). Definition: A Zellweger syndrome that ...

Based on the available information, the signs and symptoms of peroxisome biogenesis disorder 12A (also known as Zellweger spectrum disorder) include:

• Distinctive facial features: A flattened face, broad nasal bridge, high forehead, and other characteristic craniofacial anomalies [2][6]
• Neurological deficits: Seizures, loss of muscle tone (hypotonia), and other neurological problems [4][5]
• Hearing and vision problems: Sensorineural hearing loss and vision problems, including retinal degeneration [7][10]
• Liver dysfunction: Abnormal liver function tests, jaundice, and other liver-related issues [1]
• Kidney problems: Kidney dysfunction and other renal problems [4]

It's worth noting that the severity of these symptoms can vary widely among individuals with peroxisome biogenesis disorder 12A.

References: [1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [10] - Context result 10

Based on the provided context, here are the diagnostic tests associated with Peroxisome Biogenesis Disorder 12A (Zellweger):

• Elevated liver enzymes [3]
• Hyperbilirubinemia [3]
• Very long chain fatty acid (VLCFA) profile consistent with a PBD [3]
• Abnormal plasma levels of:
  • Ammonia [4]
  • Bilirubin [4]
  • Lactic dehydrogenase [4]
  • Alkaline phosphatase [4]

These diagnostic tests can help identify Peroxisome Biogenesis Disorder 12A (Zellweger) and related peroxisomal disorders.

Additionally, genetic testing for the PEX19 gene is available to diagnose this condition [5, 7]. This test can be offered by Intergen as part of their clinical genetic testing services.

Please note that these diagnostic tests are based on the information provided in the context and may not be an exhaustive list. It's always best to consult with a medical professional for accurate diagnosis and treatment.

Treatment Options for Peroxisome Biogenesis Disorder 12A (PBD12A)

Peroxisome biogenesis disorder 12A (PBD12A), also known as Zellweger syndrome, is a rare genetic disorder that affects the formation of functional peroxisomes in cells. While there is no cure for PBD12A, various treatment options are available to manage its symptoms and improve quality of life.

• Anti-epileptic drugs: These medications may be used to control seizures, which are common in individuals with PBD12A [3].
• Palliative care: This approach focuses on relieving symptoms and improving comfort, rather than curing the underlying condition. Palliative care can help manage pain, fatigue, and other complications associated with PBD12A.
• Nutritional support: A balanced diet rich in nutrients is essential for individuals with PBD12A. Nutritional supplements may be necessary to ensure adequate intake of vitamins and minerals [4].
• Gene therapy: Researchers are exploring gene therapy as a potential treatment option for PBD12A. This approach involves replacing or repairing the faulty gene responsible for the disorder.
• Recombinant adeno-associated viruses (rAAVs): These viruses can be engineered to deliver healthy copies of the PEX3 gene, which is essential for peroxisome biogenesis [9].

It's essential to note that each individual with PBD12A may require a unique treatment plan, taking into account their specific symptoms and needs. A multidisciplinary team of healthcare professionals should work together to develop an effective treatment strategy.

References:

[3] NORD rare disease drug development ad. NORD State ... ZSD are also known as peroxisome biogenesis disorders ...

[4] Integrated disease information for Peroxisome Biogenesis Disorder 12a including associated genes, mutations, phenotypes, pathways, drugs, ...

[9] Methods and compositions are provided for treatment of peroxisomal biogenesis disorders (PBDs). More particularly, recombinant adeno-associated viruses ...

Peroxisome biogenesis disorder 12A (PBD12A), also known as Zellweger syndrome, is a severe and rare genetic disorder that affects the formation of functional peroxisomes in the body. When considering differential diagnosis for PBD12A, it's essential to rule out other conditions that may present with similar symptoms.

Similarities with other disorders:

• Zellweger spectrum disorder: This is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal dystrophy, and renal disease. [8]
• Peroxisome biogenesis disorders (PBDs): These are autosomal recessive disorders characterized by neurological defects, including severe developmental delay, seizures, and vision and hearing impairments. [9]
• Cirrhosis: This is a condition where the liver becomes scarred due to chronic inflammation or infection, which can lead to impaired liver function. [1]

Key differences:

• Genetic basis: PBD12A is caused by homozygous mutation in the PEX19 gene (600279), whereas other peroxisome biogenesis disorders may be caused by mutations in different genes.
• Clinical presentation: While Zellweger spectrum disorder and PBDs share some similarities with PBD12A, they have distinct clinical presentations. For example, Zellweger spectrum disorder is characterized by severe neurologic dysfunction with profound developmental delay [6], whereas PBDs may present with a range of neurological symptoms.
• Liver function: Cirrhosis is primarily a liver condition, whereas PBD12A affects the formation of peroxisomes throughout the body.

Differential diagnosis:

To diagnose PBD12A accurately, it's crucial to consider the following:

1. Genetic testing: Confirming the presence of homozygous mutation in the PEX19 gene (600279) is essential for diagnosing PBD12A.
2. Clinical evaluation: A thorough clinical examination and medical history are necessary to rule out other conditions that may present with similar symptoms.
3. Imaging studies: Imaging studies, such as MRI or CT scans, can help identify any structural abnormalities in the brain or liver.

By considering these factors, healthcare professionals can accurately diagnose PBD12A and provide appropriate treatment and management for affected individuals.

References:

[1] - Context result 1 [6] - Context result 6 [8] - Context result 8 [9] - Context result 9