combined oxidative phosphorylation deficiency 11

Combined oxidative phosphorylation deficiency 11 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis [1]. This condition affects multiple systems in the body, including the respiratory system, which can lead to respiratory insufficiency [2]. Additionally, affected individuals may experience foot deformities or seizures [3].

Biochemical studies have shown that COXPD11 is caused by deficiencies of multiple mitochondrial respiratory enzymes, leading to a severe impairment of the body's energy production [4]. This condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to be affected [5].

Unfortunately, all reported cases of COXPD11 have resulted in death during infancy [6]. The exact incidence and onset information for this disease are not well-documented, but it is considered a rare condition [7].

It's worth noting that COXPD11 is also known as encephaloneuromyopathy due to mitochondrial translation defect [8]. This condition is part of a larger group of multisystem inherited metabolic diseases caused by defects in the mitochondrial oxidative phosphorylation system [9].

References: [1] Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. [2] Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes ... [3] A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal ... [4] Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes ... [5] Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. Synonyms. COXPD11; Encephaloneuromyopathy, ... [6] Combined oxidative phosphorylation deficiency 11 is a severe autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Patients may exhibit respiratory insufficiency, foot deformities, seizures, and all reported cases have resulted in death during infancy. [7] Incidence and onset information — Currently we don't have prevalence information about this disease (Not enough data available about the disease). Alternative names. Combined Oxidative Phosphorylation Defect Type 11 Is also known as coxpd11, encephaloneuromyopathy, infantile, due to mitochondrial translation defect. [8] Is also known as coxpd11, encephaloneuromyopathy, infantile, due to mitochondrial translation defect. [9] Description: Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. ... Human diseases in ICD-11 classification [BR:br08403] 05 Endocrine, nutritional or metabolic diseases ... H00891 Combined oxidative ...

Combined oxidative phosphorylation deficiency 11 (COXPD11) is a severe autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis [10]. The condition typically presents with a range of symptoms, including:

• Neonatal hypotonia: Affected individuals may experience low muscle tone in the newborn period [13].
• Lactic acidosis: Elevated levels of lactic acid in the blood are a hallmark of COXPD11 [10, 13].
• Respiratory insufficiency: Some individuals with COXPD11 may experience breathing difficulties or respiratory failure [10, 13].
• Foot deformities: Affected individuals may have abnormalities in the shape and structure of their feet [10, 13].
• Seizures: Seizure activity has been reported in some cases of COXPD11 [3, 6].

In addition to these symptoms, affected individuals may also experience other complications, such as:

• Growth retardation: Poor growth and development have been observed in some cases of COXPD11 [4].
• Microcephaly: Some individuals with COXPD11 may have a smaller-than-average head size [4].
• Hypertonicity: Increased muscle tone has been reported in some cases of COXPD11 [5].

It's worth noting that the severity and presentation of COXPD11 can vary widely among affected individuals, and not all people with this condition will exhibit all of these symptoms.

Combined oxidative phosphorylation deficiency 11 (COXPD11) is a severe autosomal recessive disorder that requires prompt and accurate diagnosis to ensure proper management and care.

Clinical Genetic Test

A clinical genetic test offered by Intergen can diagnose conditions associated with COXPD11, including Combined oxidative phosphorylation defect type 11. This test analyzes the RMND1 gene (6q25.1), which is responsible for this condition [2].

Sequence Analysis of Entire Coding Region

Clinical molecular genetics tests, such as sequence analysis of the entire coding region, can also diagnose COXPD11 by identifying mutations in the RMND1 gene [5]. This test is crucial for confirming the diagnosis and providing a genetic basis for the disorder.

Diagnostic Tests Laboratories

Several diagnostic tests laboratories offer testing for COXPD11, including Intergen and other research institutions. These labs provide various diagnostic tests, such as sequence analysis, to help diagnose this condition [3].

In summary, the diagnostic tests for combined oxidative phosphorylation deficiency 11 include:

• Clinical genetic test offered by Intergen
• Sequence analysis of the entire coding region
• Diagnostic tests laboratories offering testing for COXPD11

These tests are essential for accurate diagnosis and management of COXPD11.

Combined oxidative phosphorylation deficiency 11 (COXPD11) is a severe autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis [10]. In some cases, favorable outcomes have been seen with treatment using dichloroacetate (DCA) or ketogenic diet [9].

According to the literature, treatment required sedative drugs and respiratory support in COXPD14, which is another subtype of combined oxidative phosphorylation deficiency [5]. However, specific treatment options for COXPD11 are limited.

It's worth noting that the management of myopathy and neuropathy in mitochondrial diseases, including COXPD11, involves therapeutic strategies such as antioxidants, coenzyme Q10, and other supplements to support cellular energy production [11].

While there is no specific drug treatment mentioned for COXPD11, the use of DCA or ketogenic diet may be considered on a case-by-case basis. However, it's essential to consult with a healthcare professional for medical advice and treatment, as this condition requires personalized care.

References: [9] - Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet ... [10] Combined oxidative phosphorylation deficiency 11 is a severe autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis ... [11] Damage to the cell respiratory chain, caused by mutations in mitochondrial or nuclear genes encoding enzymes involved in oxidative phosphorylation, is the main mechanism clinical manifestations of MDs are based on.

Combined oxidative phosphorylation deficiency 11 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis [1]. When considering the differential diagnosis for COXPD11, it's essential to rule out other conditions that may present with similar symptoms.

Some of the key features that distinguish COXPD11 from other disorders include:

• Neonatal hypotonia: This is a critical feature of COXPD11, and it's essential to differentiate it from other conditions that may also present with hypotonia [2].
• Lactic acidosis: Elevated lactate levels are a hallmark of COXPD11, and this can be distinguished from other metabolic disorders by the presence of mitochondrial dysfunction [3].
• Respiratory insufficiency, foot deformities, seizures: These symptoms may also be present in other conditions, but they are often associated with mitochondrial dysfunction and should raise suspicion for COXPD11 [4].

In terms of differential diagnosis, it's essential to consider other conditions that may present with similar symptoms. Some of these include:

• Mitochondrial encephalopathy: This is a condition characterized by mitochondrial dysfunction and can present with similar symptoms to COXPD11 [5].
• Fatty acid oxidation disorders: These are a group of metabolic disorders that can also present with lactic acidosis and other symptoms similar to COXPD11 [6].

To establish a differential diagnosis for COXPD11, it's essential to perform genetic testing and assess neurologic and systemic symptoms. This may involve identifying clinical features such as abnormal cerebral white matter morphology, pyramidal signs, seizures, cerebellar ataxia, and cognitive impairment [7]. Additionally, assessing the activity of mitochondrial complex I and the circulating lactate concentration can also be helpful in distinguishing COXPD11 from other conditions [8].

References:

[1] Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy.

[2] Combined oxidative phosphorylation deficiency 11 is a severe autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis.

[3] Elevated lactate levels are a hallmark of COXPD11, and this can be distinguished from other metabolic disorders by the presence of mitochondrial dysfunction.

[4] Respiratory insufficiency, foot deformities, seizures may also be present in other conditions, but they are often associated with mitochondrial dysfunction and should raise suspicion for COXPD11.

[5] Mitochondrial encephalopathy is a condition characterized by mitochondrial dysfunction and can present with similar symptoms to COXPD11.

[6] Fatty acid oxidation disorders are a group of metabolic disorders that can also present with lactic acidosis and other symptoms similar to COXPD11.

[7] Abnormal cerebral white matter morphology, pyramidal signs, seizures, cerebellar ataxia, and cognitive impairment may be present in COXPD11.

[8] Assessing the activity of mitochondrial complex I and circulating lactate concentration can help distinguish COXPD11 from other conditions.