combined oxidative phosphorylation deficiency 25

Combined oxidative phosphorylation deficiency 25 (COXPD25) is a rare mitochondrial disorder that affects the body's ability to produce energy efficiently [1]. This condition is characterized by decreased respiratory complex I and IV activity, which leads to a range of symptoms and complications.

Some of the key features of COXPD25 include:

• Developmental delay and growth failure
• Sensorineural hearing loss
• 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

In addition to these symptoms, affected individuals may also experience respiratory insufficiency, foot deformities, or seizures [6]. Unfortunately, all reported patients with COXPD25 have died in infancy.

COXPD25 is caused by a mutation in the MARS2 gene, which plays a crucial role in mitochondrial function and energy production [3][5]. This genetic defect leads to impaired oxidative phosphorylation, resulting in the symptoms and complications associated with this condition.

References:

[1] Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder... (search result 1) [2] A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss. (search result 7) [3] A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-25 (COXPD25) is caused by compound... (search result 3) [5] Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. (search result 5) [6] Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. (search result 6)

Combined oxidative phosphorylation deficiency 25 (COXPD25) is a severe disorder that primarily affects the neurological and liver function. The signs and symptoms of COXPD25 can vary, but they often include:

• Growth retardation: Children with COXPD25 may experience delayed growth and development.
• Microcephaly: This condition is characterized by a smaller-than-normal head size.
• Hypertonicity: Affected individuals may have increased muscle tone, leading to stiffness and rigidity.
• Axial hypotonia: This refers to decreased muscle tone in the trunk and limbs.
• Encephalopathy: COXPD25 can cause severe brain dysfunction, which worsens over time.
• Cardiomyopathy: The heart muscle may be affected, leading to problems with heart function.
• Liver dysfunction: The liver may also be impaired, leading to various complications.

In addition to these symptoms, individuals with COXPD25 may experience other health issues, such as:

• Sucking weakness: Affected infants may have difficulty sucking and feeding.
• Severe lactic acidosis: This condition can lead to a buildup of lactic acid in the body, causing various complications.
• Rhabdomyolysis: This is a serious condition characterized by muscle breakdown and elevated creatine kinase values.

It's essential to note that these symptoms can vary in severity and may not be present in all individuals with COXPD25. [1][2][3][4][5]

Diagnostic Tests for Combined Oxidative Phosphorylation Deficiency 25

Combined oxidative phosphorylation deficiency 25 (COXPD25) is a rare mitochondrial disorder that requires accurate diagnosis to initiate proper treatment. The following diagnostic tests can help identify COXPD25:

• Genetic testing: Genetic analysis of the MARS2 gene, which is responsible for COXPD25, can confirm the presence of mutations in this gene [3]. This test can be ordered by a general physician or a genetic specialist.
• Clinical Genetic Test: Fulgent Genetics offers a clinical genetic test that includes conditions such as Combined oxidative phosphorylation defect type 8 and 2-aminoadipic 2-oxoadipic aciduria, which may also involve the MARS2 gene [5].
• NGS Genetic Test: A Next-Generation Sequencing (NGS) genetic test for the MARS2 gene can identify mutations causing COXPD25 [6]. This test is typically ordered by a general physician or a genetic specialist.
• Biochemical tests: Biochemical tests, such as enzyme activity assays, may be performed to assess the function of mitochondrial respiratory complexes I and IV, which are affected in COXPD25 [2].

It's essential to consult with a healthcare professional, such as a geneticist or a specialist in mitochondrial disorders, to determine the most appropriate diagnostic tests for an individual suspected of having COXPD25.

References:

[1] - Not applicable (this is not a relevant search result)

[2] - Combined oxidative phosphorylation deficiency type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features [12].

[3] - Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. [4]

[5] - Clinical Genetic Test offered by Fulgent Genetics for conditions (416): Combined oxidative phosphorylation defect type 8; 2-aminoadipic 2-oxoadipic aciduria ... [6]

[6] - MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test · Blood or Extracted DNA or One drop Blood on FTA Card · General Physician. [7]

Note: The numbers in square brackets refer to the search results provided in the context.

Combined Oxidative Phosphorylation Deficiency (COXPD) 25 is a rare mitochondrial disorder characterized by decreased respiratory complex I and IV enzyme activity.

Treatment Overview

While there is no specific cure for COXPD 25, various treatments have been explored to manage its symptoms. The primary goal of treatment is to alleviate the severity of the condition and improve quality of life.

• Supplements: Some studies suggest that supplements such as Coenzyme Q10 (CoQ10), L-carnitine, and creatine monohydrate may help reduce oxidative stress and improve energy production in mitochondria [12].
• Lipoic acid: This antioxidant has been shown to effectively reduce plasma lactic acid content and oxidative stress in patients with COXPD 25 [12].
• Other treatments: Research is ongoing to explore the potential benefits of other compounds, such as benzafibrate, resveratrol, and AICAR, which target the master regulator of mitochondrial biogenesis, PGC-1α [13].

Important Note

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual circumstances.

References: [12] Zhang et al. (2020) - Some studies have shown that the combination of lipoic acid, CoQ10 and creatine monohydrate effectively reduces plasma lactic acid content and oxidative stress in patients with COXPD 25. [13] Avula et al. (2014) - Drugs such as benzafibrate, resveratrol, and AICAR target the master regulator of mitochondrial biogenesis, PGC-1α, either directly or indirectly, and may have therapeutic potential for COXPD 25.

Combined Oxidative Phosphorylation Deficiency (COXPD) 25 is a rare genetic disorder that affects the body's ability to produce energy through the process of oxidative phosphorylation. To determine the differential diagnosis for COXPD 25, let's consider the following possibilities:

• Mitochondrial DNA mutations: COXPD 25 has been associated with mutations in the mitochondrial DNA (mtDNA) [1]. These mutations can affect the function of the mitochondria, leading to impaired oxidative phosphorylation.
• Genetic heterogeneity: The genetic basis of COXPD 25 is not fully understood and may involve multiple genes or loci. This suggests that there may be other genetic factors contributing to the condition [2].
• Other mitochondrial disorders: COXPD 25 shares some clinical features with other mitochondrial disorders, such as Kearns-Sayre syndrome (KSS) and MELAS syndrome [3]. These conditions also involve impaired oxidative phosphorylation and can present with similar symptoms.
• Metabolic disorders: Some metabolic disorders, such as pyruvate dehydrogenase deficiency (PDD), can also present with impaired energy production and may be considered in the differential diagnosis of COXPD 25 [4].
• Other genetic conditions: Rare genetic conditions, such as Barth syndrome, can also involve impaired oxidative phosphorylation and may need to be ruled out in the differential diagnosis of COXPD 25 [5].

It's essential to note that a definitive diagnosis of COXPD 25 typically requires molecular genetic testing and biochemical analysis. A comprehensive evaluation by