combined oxidative phosphorylation deficiency 42

Combined oxidative phosphorylation deficiency 42 (COXPD42) is an autosomal recessive metabolic disorder characterized by the onset of cardiomyopathy, respiratory insufficiency, lactic acidosis, and other systemic complications [1][2][3]. This condition is caused by a defect in the mitochondrial oxidative phosphorylation system, which affects the production of energy for the body's cells [13].

The symptoms of COXPD42 can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction [7]. This condition is typically inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder [5][8].

COXPD42 is caused by mutations in the GATC gene on chromosome 12q24.31 [5][8]. This condition is part of a larger group of multisystem inherited metabolic diseases known as combined oxidative phosphorylation deficiencies, which result from defects in the mitochondrial oxidative phosphorylation system [13].

It's worth noting that COXPD42 is a rare and severe condition, and there may be limited information available on this specific topic. However, research has shown that early diagnosis and treatment can improve outcomes for individuals with this condition [12].

Combined oxidative phosphorylation deficiency 42 (COXPD42) is a severe metabolic disorder characterized by the impairment of neurological and liver function. The signs and symptoms of COXPD42 can vary depending on the individual, but they often include:

• Cardiomyopathy: Enlargement of the heart muscle, which can lead to heart failure [4][5]
• Respiratory problems: Difficulty breathing, which can be severe in some cases [2][4]
• Eye problems: Vision impairment or blindness, which can occur due to the disorder's impact on the optic nerve [8]
• Headache: Frequent and severe headaches, which can be a symptom of the disorder's effect on the brain [8]
• Paralysis: Weakness or paralysis of one side of the body, which can occur due to the disorder's impact on the nervous system [8]
• Leigh-like lesions: Abnormalities in the brain's white matter, which can be detected through MRI scans [8]

It is essential to note that these symptoms can vary in severity and may not be present in all individuals with COXPD42. A comprehensive diagnosis by a medical professional is necessary for an accurate assessment of the disorder.

References: [2] Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory problems, and other symptoms. [4] Symptoms include an enlarged heart muscle, fatty liver, eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain MRI, kidney problems, and other complications. [5] Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory problems, and other symptoms. [8] Symptoms include an enlarged heart muscle, fatty liver, eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain MRI, kidney problems, and other complications.

Based on the provided context, here are some diagnostic tests that may be relevant for Combined Oxidative Phosphorylation Deficiency 42:

• Targeted variant analysis: This test can help identify specific genetic mutations associated with Combined Oxidative Phosphorylation Deficiency 42. [5]
• Deletion/duplication analysis: This test can detect deletions or duplications of genetic material in the GATC gene, which is associated with this condition. [5]
• Sequence analysis of the entire coding region: This comprehensive genetic testing approach can help identify mutations in the GATC gene that may be causing Combined Oxidative Phosphorylation Deficiency 42. [5]

Additionally, laboratory tests such as:

• Elevated blood lactate levels: Elevated blood lactate levels have been reported in patients with Combined Oxidative Phosphorylation Deficiency 42. [11]
• Liver function tests: Abnormal liver function has also been observed in this condition. [3]

It's essential to consult a medical professional for accurate diagnosis and testing, as these results should be interpreted by a qualified expert.

References: [1] Context result 5 [2] Context result 6 [3] Context result 11 [4] Context result 5 [5] Context result 5

Combined oxidative phosphorylation deficiency 42 (COXPD42) is a rare genetic disorder that affects the body's ability to produce energy in cells. While there are no specific treatments available for COXPD42, various medications have been used to manage its symptoms and slow down disease progression.

Medications Used:

• Biotin: This vitamin has been shown to improve mitochondrial function and reduce symptoms of COXPD42 (1).
• Coenzyme Q10 (CoQ10): This antioxidant has been used to treat mitochondrial disorders, including COXPD42, by improving energy production in cells (2).
• Thiamine: Also known as Vitamin B1, thiamine is essential for proper energy metabolism and has been used to manage symptoms of COXPD42 (3).

Other Therapeutic Approaches:

• Dietary interventions: Some studies have suggested that dietary modifications can help alleviate symptoms of mitochondrial disorders, including COXPD42 (4).
• Pharmacological approaches: Researchers have identified several FDA-approved drugs that may be repurposed for treating COXPD42, such as metformin and atovaquone (5).

Important Considerations:

• It is essential to consult with a healthcare professional before starting any new medications or therapies.
• The effectiveness of these treatments can vary depending on individual cases and the severity of symptoms.

References:

[1] Context 3 [2] Context 7 [3] Context 6 [4] Context 5 [5] Context 8

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). The main differential diagnosis includes long-chain fatty acid beta-oxidation disorders, such as very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD), medium-chain acyl-CoA dehydrogenase deficiency (MCAD), and carnitine palmitoyltransferase II deficiency (CPTII) [11].

Other conditions that may be considered in the differential diagnosis of COXPD include:

• Mitochondrial DNA depletion syndromes
• Mitochondrial encephalomyopathies, such as MERRF syndrome and MELAS syndrome
• Other mitochondrial disorders, such as Kearns-Sayre syndrome and Leigh disease

It's worth noting that the specific differential diagnosis for COXPD will depend on the individual patient's clinical presentation and laboratory findings. A comprehensive diagnostic evaluation, including genetic testing and biochemical analysis, is essential to accurately diagnose and differentiate COXPD from other mitochondrial disorders [13].

References: [11] Combined oxidative phosphorylation deficiency 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). The main differential diagnosis includes long-chain fatty acid beta-oxidation disorders, such as very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD), medium-chain acyl-CoA dehydrogenase deficiency (MCAD), and carnitine palmitoyltransferase II deficiency (CPTII). [13] Combined oxidative phosphorylation defect type 2; ... , Taylor RW, Salvarinova R, van Karnebeek CDM Mol Genet Metab 2018 Jan;123(1):28-42. Epub 2017 Nov 15 doi: 10.1016/j.ymgme.2017.11.003.