combined oxidative phosphorylation deficiency 13

Combined oxidative phosphorylation deficiency-13 (COXPD13) is a rare mitochondrial disease that affects various systems in the body. It is characterized by a defect in mitochondrial protein synthesis, which leads to severe neurologic impairment in affected individuals.

Symptoms and Characteristics:

• Severe neurologic impairment in the first months of life
• Hypotonia (low muscle tone)
• Abnormal dystonic movements
• Hearing loss
• Poor feeding
• Global developmental delay

COXPD13 is an autosomal recessive multisystem disorder, meaning that it is inherited in a recessive pattern and affects multiple systems in the body. The disease results from mitochondrial dysfunction, which can lead to severe consequences if left untreated.

References:

• [1] Combined oxidative phosphorylation deficiency-13 (COXPD13) is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction. Affected individuals develop severe neurologic impairment in the first months of life, including hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and ... [1]
• [3] Combined oxidative phosphorylation deficiency-13 (COXPD13) is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction. Affected individuals develop severe neurologic impairment in the first months of life, including hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and ... [3]
• [6] Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis. [6]

Note: The information provided is based on the search results and may not be an exhaustive list of symptoms or characteristics of COXPD13.

Combined oxidative phosphorylation defect type 13 (COXPD13) is a rare mitochondrial disease characterized by severe neurologic impairment in the first months of life. The clinical features of COXPD13 include:

• Severe neurologic impairment: Affected individuals develop severe dystonic movements, facial dyskinesias, and reduced tendon reflexes [1].
• Hypotonia: Affected individuals have low muscle tone, which can lead to poor or absent speech, inability to walk, and abnormal movements [2].
• Abnormal eye movement: Individuals with COXPD13 may experience abnormal eye movement [6].
• Muscle weakness: Muscle weakness is a common feature of COXPD13, leading to difficulties in walking and maintaining balance [7].
• Seizures: Seizures are another symptom associated with COXPD13 [7].
• Increased circulating lactate concentration: Elevated lactate levels are a hallmark of mitochondrial diseases like COXPD13 [4].
• Abnormal brain imaging: Brain imaging studies, such as MRI or CT scans, may show T2-weighted abnormalities and white matter changes [5] and [9].

These symptoms can vary in severity and combination among affected individuals. Early diagnosis and management are crucial to improve the quality of life for those with COXPD13.

References: [1] Context 1 [2] Context 2 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [9] Context 9

Combined oxidative phosphorylation deficiency-13 (COXPD13) is a rare mitochondrial disease that requires accurate diagnosis for effective management. Diagnostic tests for COXPD13 typically involve genetic testing and biochemical analysis.

Genetic Testing

Genetic testing is the primary diagnostic tool for COXPD13. The condition is caused by pathogenic variants in the PNPT1 gene, which codes for a protein involved in mitochondrial protein synthesis. Genetic testing can detect these variants in the patient's DNA, confirming the diagnosis of COXPD13.

• Targeted Testing: Targeted genetic testing specifically looks for mutations in the PNPT1 gene associated with COXPD13 (PNPT1 Targeted Testing Short Name: PNPT1 Targeted) [12].
• Sequencing: Sequencing tests, such as MTFMT sequencing, can also be considered to identify pathogenic variants in the PNPT1 gene [9].

Biochemical Analysis

In addition to genetic testing, biochemical analysis is used to confirm the diagnosis of COXPD13. This may include:

• Lactate and Pyruvate Levels: Elevated lactate and pyruvate levels in plasma and cerebrospinal fluid (CSF) are indicative of mitochondrial dysfunction [7].
• Brain Imaging: Brain magnetic resonance imaging (MRI) may show hyperintensities, which can be associated with COXPD13 [7].

Clinical Features

The clinical features of COXPD13 include severe neurologic impairment in early infancy, including hypotonia, abnormal movements, hearing loss, poor feeding, global developmental delay, and abnormal eye movements. These symptoms are often present at birth or within the first months of life.

References

• [1] Combined oxidative phosphorylation deficiency-13 (COXPD13) is an autosomal recessive multisystem disorder caused by mitochondrial dysfunction.
• [5] Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis.
• [10] Combined oxidative phosphorylation deficiency-13 (COXPD13) is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction.

Combined oxidative phosphorylation deficiency 13 (COXPD13) is a rare mitochondrial disease that requires prompt and effective treatment to manage its symptoms and prevent further complications.

Treatment Options

According to the search results, there are some promising treatment options for COXPD13:

• Dichloroacetate (DCA): This medication has been shown to be effective in treating COXPD13 by improving mitochondrial function and reducing symptoms. [8]
• Ketogenic diet: A ketogenic diet may also be beneficial in managing the symptoms of COXPD13, although more research is needed to confirm its effectiveness. [8]

Other Treatment Considerations

While these treatment options show promise, it's essential to note that each individual with COXPD13 may respond differently to treatment. In some cases, sedative drugs and respiratory support may be required to manage severe symptoms. [9]

Importance of Early Diagnosis and Treatment

Early diagnosis and treatment are crucial in managing the symptoms of COXPD13 and preventing further complications. Prompt medical attention can help improve outcomes and quality of life for individuals with this condition.

References:

[8] - Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet ... Combined oxidative phosphorylation deficiency 13, AR, 3 ... [9] by X Zhang · 2024 · Cited by 3 — ... treatment required sedative drugs and respiratory support. In COXPD14, seizures of the early-onset epileptic encephalopathy phenotype are ...

Combined oxidative phosphorylation deficiency (COXPD) 13, also known as COXPD13, is a rare mitochondrial disease characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial spasms), and other systemic symptoms.

When considering a differential diagnosis for COXPD13, it is essential to identify the clinical features and assess neurologic and systemic symptoms. The main differential diagnoses include:

• Long-chain fatty acid beta-oxidation disorders
• Other mitochondrial diseases, such as MERRF syndrome or Kearns-Sayre syndrome
• Neurodegenerative disorders, like spinal muscular atrophy or infantile spasms
• Metabolic disorders, including Pompe disease or Krabbe disease

To establish a differential diagnosis, it is crucial to perform appropriate diagnostic investigations, including genetic testing. This can help identify the underlying cause of the symptoms and guide further management.

According to [11], establishing a differential diagnosis in patients with a suspected LD or gLE will begin by identifying these clinical features, assessing neurologic and systemic symptoms, and then performing appropriate diagnostic investigations (i.e., genetic testing).

In addition, [13] mentions that Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder belonging to mitochondrial diseases with an autosomal recessive inheritance pattern. The differential diagnosis of COXPD should consider other mitochondrial diseases, as well as neurodegenerative and metabolic disorders.

It's worth noting that the clinical features of COXPD13 can vary widely among affected individuals, making differential diagnosis challenging. A comprehensive evaluation by a multidisciplinary team of healthcare professionals is essential to accurately diagnose and manage this condition.

References: [11] Description. Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial spasms), and other systemic symptoms. [13] Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder belonging to mitochondrial diseases with an autosomal recessive inheritance pattern.