combined oxidative phosphorylation deficiency 16

Combined Oxidative Phosphorylation Deficiency 16 (COXPD16) is an autosomal recessive multisystem disorder with hypertrophic cardiomyopathy as a major feature [4]. It is caused by homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36 [1].

The features of COXPD16 can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction [5]. This disorder is characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I, II, III, IV, and V [3].

COXPD16 is a severe disorder with early onset and autosomal recessive inheritance. It is one of the many types of combined oxidative phosphorylation deficiency (COXPD), which represents a large and complex group of multisystem inherited metabolic diseases due to genetically determined defects involving primarily the mitochondrial oxidative phosphorylation system [11].

Early diagnosis and genetic testing can help identify the mutation in the MRPL44 gene, confirming the diagnosis of COXPD16. However, prevention is not possible since it is a genetic disorder.

References: [1] A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-16 (COXPD16) is caused by homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36. [3] An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I ... [4] Combined oxidative phosphorylation deficiency-16 (COXPD16) is an autosomal recessive multisystem disorder with hypertrophic cardiomyopathy as a major feature. [5] Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.

Combined oxidative phosphorylation deficiency 16 (COXPD16) is a rare mitochondrial disorder characterized by various signs and symptoms. According to the available information, some of the common features of COXPD16 include:

• Hypertrophic cardiomyopathy: This is a major feature of COXPD16, where the heart muscle becomes thickened, leading to potential complications.
• Liver steatosis: The liver may become fatty and inflamed due to impaired oxidative phosphorylation.
• Decreased levels of mitochondrial complexes I and IV: These are essential components of the mitochondria that help generate energy for the body. Their decreased levels can lead to various symptoms.

Additionally, some individuals with COXPD16 may experience:

• Growth retardation: This refers to a slower-than-average growth rate in children.
• Microcephaly: A condition where the head is smaller than average.
• Hypertonicity: Increased muscle tone, which can lead to stiffness and rigidity.
• Axial hypotonia: Weakness or low muscle tone in the trunk and limbs.
• Encephalopathy: Brain dysfunction that can manifest as seizures, developmental delays, or other cognitive impairments.

It's essential to note that the severity and presentation of COXPD16 can vary significantly among individuals. Some people may experience mild symptoms, while others may have more severe manifestations.

References:

• [1] Combined oxidative phosphorylation deficiency 16 is an autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle.
• [3] Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.
• [6] A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms.
• [7] Combined oxidative phosphorylation deficiency-16 (COXPD16) is an autosomal recessive multisystem disorder with hypertrophic cardiomyopathy as a major feature.

Combined Oxidative Phosphorylation Deficiency (COXPD) type 16, also known as MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2, is a rare mitochondrial disorder. The diagnosis of this condition is typically made through genetic testing.

• Genetic Testing: This is the primary method for diagnosing COXPD type 16. Genetic tests can identify mutations in the MRPS16 gene that are associated with this condition [8].
• Mutation Analysis: Specific mutations in the MRPS16 gene, such as deletions or duplications, can be detected through genetic testing [3].

It's worth noting that genetic testing for COXPD type 16 may not be widely available, and it's essential to consult with a healthcare professional or a genetic counselor to determine the best course of action.

Additionally, some laboratories offer genetic panels that include the MRPS16 gene. These panels can provide comprehensive information on various genetic conditions, including COXPD [10].

It's also important to note that while genetic testing is crucial for diagnosing COXPD type 16, it may not be possible to prevent this condition since it is a genetic disorder [11]. However, genetic testing of expecting parents and prenatal diagnosis can help in identifying the risk of passing on the condition to future generations.

References: [3] - Genetic tests related with Combined Oxidative Phosphorylation Deficiency 16; 1, MRPL44 Deletion/Duplication Analysis [8] - The diagnosis of MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 is usually made through genetic testing. [10] - Sema4 offers a wide range of panels. Testing can be performed for more than 280 genes, a smaller subset of genes, or even just 1 gene. [11] - How can Combined Oxidative Phosphorylation Deficiency 16 Disorder be Prevented?

Combined Oxidative Phosphorylation Deficiency (COPD) 16 is a rare mitochondrial disorder characterized by complex I and IV deficiency. While there are no specific treatments available for COPD 16, various therapeutic strategies have been explored to manage its symptoms.

Treatment Options

• Biotin: Biotin supplementation has been reported to stabilize the condition in some patients (1).
• Coenzyme Q10 (CoQ10): CoQ10 is an essential coenzyme that plays a crucial role in mitochondrial energy production. Its supplementation may help alleviate symptoms by improving mitochondrial function (3, 7).
• Thiamine: Thiamine, also known as vitamin B1, is another essential nutrient for mitochondrial energy production. Supplementing with thiamine may be beneficial in managing the condition (2).
• Dichloroacetate (DCA): DCA has been used to treat various mitochondrial disorders by improving mitochondrial function and reducing oxidative stress. Its efficacy in COPD 16 patients is still being researched (2).

Other Therapeutic Strategies

• Electron transfer chain function enhancers: Enhancing electron transfer chain function using agents like idebenone, riboflavin, or coenzyme Q10 may be beneficial in managing the condition (3).
• Valproate: Valproate can be used to control seizures in patients without POLG deficiency. However, liver function should be carefully monitored (4).

Important Considerations

It is essential to note that each patient's response to treatment may vary, and a comprehensive treatment plan should be tailored to the individual's specific needs.

References:

1. [1] - S Avula · 2014
2. [2] - Combined oxidative phosphorylation deficiency: AR: 3: 615395: MRPL44: 611849: 3p25.2
3. [3] - by AW El-Hattab · 2017
4. [4] - by S DiMauro · 2009

Differential Diagnosis of Combined Oxidative Phosphorylation Deficiency 16 (COXPD16)

Combined oxidative phosphorylation deficiency 16 (COXPD16) is a severe disorder belonging to mitochondrial diseases with an autosomal recessive inheritance pattern. The differential diagnosis for COXPD16 includes various conditions that present similar symptoms and clinical features.

Key Conditions to Consider:

• Long-chain fatty acid beta-oxidation disorders: These disorders can also present with similar symptoms, such as muscle weakness, seizures, and developmental delays.
• Mitochondrial encephalopathy: This condition is characterized by brain dysfunction and can present with similar neurological symptoms, including seizures, ataxia, and cognitive impairment.
• Hereditary spastic paraplegia: This group of disorders affects the nervous system and can present with similar symptoms, such as muscle weakness, spasticity, and cognitive impairment.

Clinical Features to Assess:

When establishing a differential diagnosis for COXPD16, it is essential to assess the following clinical features:

• Neurological symptoms: Muscle weakness, seizures, ataxia, and cognitive impairment.
• Systemic symptoms: Developmental delays, failure to thrive, and other systemic manifestations.
• Genetic testing: Genetic analysis can help confirm the diagnosis of COXPD16 and distinguish it from other