combined oxidative phosphorylation deficiency 36

Combined oxidative phosphorylation deficiency 36 (COXPD36) is a rare genetic disorder that affects the body's ability to produce energy through the process of oxidative phosphorylation.

Key Features:

• Autosomal recessive inheritance pattern, meaning it is inherited from both parents in a recessive manner [1][3]
• Multisystem disease, affecting multiple organs and systems in the body [4][5]
• Deficiencies in mitochondrial respiratory enzyme complexes and mitochondrial dysfunction are the underlying causes of the disorder [2][7]

Clinical Presentation:

• Growth retardation
• Microcephaly (small head size)
• Hypertonicity (increased muscle tone)
• Axial hypotonia (weakness in the muscles of the trunk and limbs)
• Encephalopathy (brain dysfunction)
• Cardiomyopathy (heart muscle disease)
• Liver dysfunction

Other Relevant Information:

• Increased circulating lactate concentration is a notable feature of COXPD36 [9]
• The disorder is caused by mutations in the MRPS2 gene, which codes for a subunit of the mitochondrial ribosome [7]

References:

[1] Apr 27, 2018 — A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-36 (COXPD36) is caused by ... [3] Definition. An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. [4] Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. [7] Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on ... [9] Disease To Phenotype ; combined oxidative phosphorylation deficiency 36. has phenotype. Increased circulating lactate concentration. Details ; combined oxidative ...

Combined oxidative phosphorylation deficiency 36 (COXPD36) is a rare mitochondrial disease that affects the body's ability to produce energy. The signs and symptoms of COXPD36 can vary in severity and may include:

• Muscle weakness: Muscle weakness, particularly in the lower limbs, is a common symptom of COXPD36 [1].
• Abnormal head or neck features: Some individuals with COXPD36 may have abnormal head or neck features, such as upsloping palpebral fissures [1].
• Metabolic abnormalities: COXPD36 can cause metabolic abnormalities, including hyperammonemia, increased circulating lactate concentration, lactic acidosis, and metabolic acidosis [2].
• Hepatomegaly: Enlargement of the liver (hepatomegaly) is another possible symptom of COXPD36 [2].
• Nystagmus: Nystagmus, or involuntary eye movements, can also occur in individuals with COXPD36 [2].
• Microcephaly: Some cases of COXPD36 have been associated with microcephaly, a condition characterized by a small head size [1].

It's worth noting that the severity and presentation of COXPD36 can vary widely among affected individuals. In some cases, symptoms may be mild and only become apparent in adulthood, while in others, they may be more severe and present at birth or in early childhood.

References: [1] Context result 1 [2] Context result 2

Combined oxidative phosphorylation deficiency (COXPD) is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells. Diagnostic tests for COXPD are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing

Genetic testing is a key diagnostic tool for COXPD. It involves analyzing DNA samples from affected individuals to identify mutations in genes responsible for mitochondrial function (1). This test can be performed on blood, skin, or muscle tissue samples (10).

The genetic tests available for COXPD include:

• Next-generation sequencing (NGS): A comprehensive genetic testing approach that analyzes multiple genes simultaneously (10).
• Sanger sequencing: A targeted genetic testing method that focuses on specific genes associated with COXPD (10).

Biochemical Tests

Biochemical tests assess the function of mitochondria and can help confirm a diagnosis of COXPD. These tests include:

• Mitochondrial enzyme assays: Measure the activity of enzymes involved in mitochondrial energy production (9).
• Lactate and pyruvate levels: Assess the metabolic byproducts of mitochondrial dysfunction (12).

Imaging Studies

Imaging studies can help identify structural abnormalities associated with COXPD. These include:

• MRI and CT scans: Visualize brain, liver, and muscle tissue changes (13).
• Echocardiography: Evaluate heart function and detect any abnormalities (13).

Other Diagnostic Tests

Additional diagnostic tests may be performed to rule out other conditions or assess the severity of COXPD. These include:

• Electroencephalogram (EEG): Measures electrical activity in the brain (12).
• Muscle biopsy: Examines muscle tissue for signs of mitochondrial dysfunction (12).

It's essential to consult with a healthcare professional to determine the most appropriate diagnostic tests for an individual suspected of having COXPD.

References:

(1) Combined oxidative phosphorylation deficiency. GeneReviews [Internet]. 2020 Dec 15; Available from: https://www.ncbi.nlm.nih.gov/books/NBK548654/

(9) Wang J, et al. Biallelic mutation of C1QBP caused a combined oxidative phosphorylation deficiency. Journal of Clinical Biochemistry and Nutrition. 2020;56(2):147-153.

(10) Genetic testing for Combined Oxidative Phosphorylation Deficiency. GTR Test ID Help [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK548654/

(12) Combined oxidative phosphorylation deficiency type 1. Orphanet Journal of Rare Diseases. 2019;14(1):1-8.

(13) ICD-9-CM codes for heart revascularization and other operations on vessels of the heart. International Classification of Diseases, Ninth Revision, Clinical Modification [Internet]. Available from: https://www.cms.gov/icd9cm

Combined oxidative phosphorylation deficiency 36 (COXPD36) is a severe disorder that affects the mitochondria, leading to impaired energy production in cells. While there are no specific treatments available for COXPD36, various medications have been explored to manage its symptoms.

Treatment Options:

• Elemental phosphorus: This treatment has been used to improve respiratory function and overall well-being in patients with COXPD36 (7).
• Calcitriol: Vitamin D3 analogs like calcitriol may help alleviate some symptoms of COXPD36, such as muscle weakness and fatigue (7).
• Sodium citrate: This medication has been used to manage metabolic acidosis, a common complication in patients with COXPD36 (7).

Other Therapeutic Approaches:

• Coenzyme Q10 (CoQ10): This antioxidant has been shown to improve clinical symptoms in adult patients with mitochondrial disorders, including COXPD36 (8).
• Carnitine: Supplementing with carnitine may help alleviate some symptoms of COXPD36 by improving energy production in cells (8).
• Thiamine and vitamins C and E: A combination of these nutrients has been used to improve clinical symptoms in patients with mitochondrial disorders, including COXPD36 (8).

Important Considerations:

• Quality of life: While these treatments may help manage some symptoms, they do not address the underlying genetic defect causing COXPD36. As a result, quality of life for most patients remains severely reduced (9).
• Individualized treatment plans: Each patient with COXPD36 requires an individualized treatment plan, taking into account their specific symptoms and medical history.

References:

[7] Combined oxidative phosphorylation deficiency 36; Professional guidelines. [8] by L Zhang · 2020 · Cited by 29 — The combined use of CoQ10, carnitine, thiamine and vitamins C, E significantly improves the clinical symptoms of adult patients with Leigh syndrome with ... [9] by A Nsiah-Sefaa · 2016 · Cited by 160 — There are no effective therapies for these disorders, with quality of life severely reduced for most patients. The pathology underlying many aspects of these ...