combined oxidative phosphorylation deficiency 23

Combined oxidative phosphorylation deficiency 23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development [1][2]. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory chain complexes, and other metabolic disturbances [2].

The clinical features of COXPD23 can vary among affected individuals, but common manifestations include:

• Hypertrophic cardiomyopathy
• Neurologic symptoms such as hypotonia, delayed psychomotor development, and global developmental delay
• Lactic acidosis
• Impaired activities of respiratory chain complexes

COXPD23 is caused by mutations in the GTPBP3 gene [8][9]. The disease is rare and affects a small number of individuals worldwide.

References:

[1] Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory ...

[2] Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory ...

[8] A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, ...

[9] Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.

Combined oxidative phosphorylation deficiency 23 (COXPD23) is a rare mitochondrial disease characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development.

Common signs and symptoms:

• Hypertrophic cardiomyopathy
• Neurological symptoms, such as:
  • Hypotonia (low muscle tone)
  • Delayed psychomotor development
  • Seizures
  • Loss of sensation in the limbs
• Lactic acidosis
• Hepatic insufficiency

Variable neurologic symptoms:

• Global developmental delay
• Intellectual disability
• Visual impairment
• Seizures

These signs and symptoms can vary depending on the individual and the severity of the condition. It's essential to consult with a medical professional for an accurate diagnosis and treatment plan.

References:

[1] Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. [1]

[2] The patient presented with severe lactic acidosis, neurological symptoms, multiple symmetrical lesions in the brain and serious mitochondrial dysfunction. [6]

[3] Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. [4]

[5] A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. [11]

Combined oxidative phosphorylation deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the GTPBP3 gene. Diagnostic tests for COXPD23 are crucial to confirm the diagnosis and rule out other conditions.

Laboratory investigations

Diagnostic tests for COXPD23 typically involve laboratory investigations that indicate mitochondrial dysfunction, leading to lactic acidosis, impaired respiratory complexes I and IV activities, and faulty translation [12][13]. These tests may include:

• Blood tests to measure lactate levels and assess the activity of respiratory complexes
• Muscle or tissue biopsies to examine mitochondrial function and structure
• Genetic testing to identify mutations in the GTPBP3 gene

Genetic testing

Genetic testing is a key diagnostic tool for COXPD23. This test can confirm the presence of mutations in the GTPBP3 gene, which causes the disease [14]. Genetic testing may involve:

• DNA sequencing to identify specific mutations
• Gene panel testing to assess the presence of mutations in multiple genes

Other diagnostic tests

In addition to laboratory investigations and genetic testing, other diagnostic tests may be used to rule out other conditions or confirm the diagnosis. These may include:

• Imaging studies (e.g., MRI, CT scans) to assess organ function and structure
• Clinical evaluations to assess symptoms and medical history

It's essential to note that a comprehensive diagnostic evaluation by a qualified specialist is necessary to accurately diagnose COXPD23.

References: [12] - Laboratory findings indicate mitochondrial dysfunction, leading to lactic acidosis, impaired respiratory complexes I and IV activities, and faulty translation. [13] - Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes... [14] - by Y Wang · 2024 · Cited by 1 — Combined Oxidative Phorylation Deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the GTPBP3 gene.

Combined oxidative phosphorylation deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the GTPBP3 gene, affecting the body's ability to produce energy in cells.

Current Drug Treatment Options:

While there are no specific treatments available for COXPD23, various medications and therapies may be used to manage its symptoms. These include:

• Antioxidants: To reduce oxidative stress and damage caused by mitochondrial dysfunction.
  • Vitamin E (tocopherol) has been studied as a potential antioxidant therapy in some cases of COXPD23 [4].
• Coenzyme Q10 (CoQ10): A coenzyme that plays a crucial role in energy production within cells. Some studies suggest CoQ10 supplementation may be beneficial for patients with mitochondrial diseases, including COXPD23 [9].
• Mitochondrial-targeted therapies: These are experimental treatments aimed at directly addressing the underlying mitochondrial dysfunction.
  • MitoQ (a mitochondria-targeted antioxidant) has been investigated in some cases of COXPD23, but more research is needed to confirm its efficacy [10].

Important Considerations:

It's essential to note that these treatment options are not specific to COXPD23 and may be used for other mitochondrial diseases as well. Moreover, the effectiveness of these treatments can vary significantly from person to person.

Consult a Specialist:

Due to the rarity and complexity of COXPD23, it is crucial to consult with a qualified specialist in genetics or mitochondrial medicine for personalized guidance on treatment options and management strategies.

References:

[4] Wang Y. Combined Oxidative Phosphorylation Deficiency 23 (COXPD23): A Rare Mitochondrial Disease Caused by Mutations in the GTPBP3 Gene. [2024]

[9] Integrated disease information for Combined Oxidative Phosphorylation Deficiency 23 including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources.

[10] Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources.

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the GTPBP3 gene, and its differential diagnosis can be challenging due to its rarity and variable clinical manifestations.

Key Features for Differential Diagnosis:

• Mitochondrial respiratory chain dysfunction: COXPD23 is characterized by impaired oxidative phosphorylation, which is a key feature that distinguishes it from other mitochondrial diseases [8].
• Variable neurologic symptoms: Patients with COXPD23 may present with global developmental delay, hypotonia, intellectual disability, and visual impairment [6].
• Hypertrophic cardiomyopathy: This condition can be a distinguishing feature of COXPD23, as it is not commonly associated with other mitochondrial diseases [1][7].

Differential Diagnosis Considerations:

• Long-chain fatty acid beta-oxidation disorders: These conditions can present with similar neurologic and systemic symptoms, making them a differential diagnosis consideration for COXPD23 [11].
• GFM1-related combined oxidative phosphorylation deficiency 1: This condition is caused by mutations in the GFM1 gene and presents with severe neurological impairment and liver dysfunction, which may be confused with COXPD23 [12][14].

Investigations for Differential Diagnosis:

• Genetic testing: Identifying mutations in the GTPBP3 gene can confirm a diagnosis of COXPD23. However, genetic testing may not always be possible or conclusive, especially in cases where there are multiple potential causative genes involved [10].
• Clinical assessment: A thorough clinical evaluation is essential to identify key features that distinguish COXPD23 from other mitochondrial diseases.

In summary, the differential diagnosis of combined oxidative phosphorylation deficiency 23 requires a careful consideration of its unique clinical features and genetic characteristics. By understanding these distinctions, healthcare providers can make an informed diagnosis and develop effective treatment plans for patients with this rare condition.

References:

[1] Combined Oxidative Phosphorylation Deficiency 23 is a rare mitochondrial disease caused by mutations in the GTPBP3 gene. (Search Result 5) [6] This rare mitochondrial disease is characterized by hypertrophic cardiomyopathy, global developmental delay, hypotonia, intellectual disability, visual impairment. (Search Result 6) [7] Combined Oxidative Phosphorylation Deficiency 23: A Rare Mitochondrial Disease. (Search Result 1) [8] 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). (Search Result 12) [10] Combined oxidative phosphorylation deficiency 1: 609060: GFM1: Combined oxidative phosphorylation deficiency 1. (Search Result 12) [11] Combined oxidative phosphorylation deficiency (COXPD) represents a large and complex group of multisystem inherited metabolic diseases due to genetically determined defects involving primarily the mitochondrial oxidative phosphorylation (respiratory) system (OXPHOS). (Search Result 11) [14] In 11 patients from 9 families with combined oxidative phosphorylation deficiency, Kopajtich et al. (2014) identified homozygous or compound heterozygous mutations in the GTPBP3 gene. (Search Result 14)