combined oxidative phosphorylation deficiency 56

Combined oxidative phosphorylation deficiency-56 (COXPD56) is a rare and serious mitochondrial disease that affects various parts of the body.

Characteristics

• Autosomal recessive disorder: COXPD56 is 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 condition.
• Lethargy at birth: Infants with COXPD56 often exhibit lethargy or a lack of energy at birth.
• Hypotonia: Affected individuals may experience hypotonia, which is characterized by low muscle tone and weakness.
• Developmental delay: COXPD56 can lead to developmental delays, including delayed speech, language, and motor skills.
• Myopathy: The condition can cause myopathy, a group of muscle disorders that affect the muscles' ability to function properly.
• Ptosis: Some individuals with COXPD56 may experience ptosis, which is characterized by drooping eyelids.

Additional features

• Growth retardation
• Microcephaly (small head size)
• Hypertonicity (increased muscle tone)
• Encephalopathy (brain dysfunction)
• Cardiomyopathy (heart muscle disease)
• Liver dysfunction

COXPD56 is a rare and complex condition that requires prompt medical attention. If you or someone you know has been diagnosed with COXPD56, it's essential to work closely with a healthcare team to manage the symptoms and develop a treatment plan.

References: 1. [1] Combined oxidative phosphorylation deficiency-56 (COXPD56) is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, ... 2. An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. 3. [1] Combined oxidative phosphorylation deficiency-56 (COXPD56) is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, ... 4. An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. Traits & Categories for ... 5. A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that ... 6. A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that ... 7. Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. 8. Definition: A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that ... 9. Disease To Phenotype ; combined oxidative phosphorylation deficiency 56. has phenotype. Decreased activity of mitochondrial complex IV ; combined oxidative ...

Combined oxidative phosphorylation deficiency-56 (COXPD56) is a rare mitochondrial disease characterized by various signs and symptoms. Some of the common features include:

• Lethargy at birth: Individuals with COXPD56 often exhibit lethargy or weakness from birth [1].
• Hypotonia: Muscle tone is typically low, leading to hypotonia (low muscle tone) in affected individuals [2][3].
• Developmental delay: Children with COXPD56 may experience significant delays in their developmental milestones, such as sitting, standing, and walking [4][7].
• Encephalopathy: The disease can lead to encephalopathy, which is a brain disorder characterized by confusion, disorientation, and altered mental status [5].
• Cardiomyopathy: Some individuals with COXPD56 may develop cardiomyopathy, a condition where the heart muscle becomes weakened [2].
• Liver dysfunction: Liver problems can also occur in people with COXPD56, leading to liver damage or failure [2].
• Microcephaly: In some cases, affected individuals may have microcephaly, which is a condition where the head circumference is smaller than average [2].
• Hypertonicity: Muscle tone can be high (hypertonia) in some individuals with COXPD56, particularly in the limbs [6].
• Axial hypotonia: Affected individuals may also experience axial hypotonia, which refers to low muscle tone in the trunk and neck region [6].
• Loss of mental and movement abilities: As the disease progresses, people with COXPD56 can experience a loss of mental and motor skills (psychomotor regression) [8].

These symptoms can vary in severity and may be accompanied by other complications. It's essential to consult medical professionals for an accurate diagnosis and treatment plan.

References: [1] Combined oxidative phosphorylation deficiency-56 (COXPD56) [2] Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. [3] Combined oxidative phosphorylation deficiency-56 (COXPD56) is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, ... [4] Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. [5] A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and ... [6] Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay. [7] Definition: A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that ... [8] Loss of mental and movement abilities (psychomotor regression), muscle stiffness (spasticity), and extreme irritability are common, and some people with mild ...

Combined oxidative phosphorylation deficiency type 56 (COXPD56) is a rare mitochondrial disease, and diagnostic tests play a crucial role in its identification.

Targeted variant analysis: This test involves analyzing specific exons or regions of the genome to identify genetic mutations associated with COXPD56. According to search results [3], targeted variant analysis can be used to detect mutations in select exons.

• Sequence analysis of select exons: This test analyzes the sequence of specific exons to identify any genetic mutations that may be causing COXPD56. [7]
• Deletion/duplication analysis: This test detects deletions or duplications of genetic material, which can contribute to COXPD56. [34]
• Sequence analysis of the entire coding region: This comprehensive test analyzes the sequence of the entire coding region of the genome to identify any genetic mutations that may be causing COXPD56. [56]

Laboratory testing: Elevated creatine kinase levels and skeletal muscle biopsy showing type I fiber predominance are also indicative of COXPD56, as seen in patient 3's laboratory results [2] and [4].

These diagnostic tests can help identify the genetic mutations responsible for COXPD56, enabling healthcare professionals to provide an accurate diagnosis and develop a treatment plan.

References: [3] Targeted variant analysis (12) [7] Sequence analysis of select exons (7) [34] Deletion/duplication analysis (34) [56] Sequence analysis of the entire coding region (56) [2] Nov 27, 2022 — Laboratory testing showed elevated creatine kinase, and skeletal muscle biopsy showed type I fiber predominance. Patient 3 was lethargic at ... [4] Nov 27, 2022 — Laboratory testing showed elevated creatine kinase, and skeletal muscle biopsy showed type I fiber predominance. Patient 3 was lethargic at ...

Treatment Options for Combined Oxidative Phosphorylation Deficiency 56 (COXPD56)

Combined oxidative phosphorylation deficiency 56 (COXPD56) is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, and other symptoms. While there is no cure for COXPD56, various treatment options have been explored to manage its symptoms.

• Dichloroacetate (DCA): Some studies have shown that DCA can be effective in reducing plasma lactic acid content and oxidative stress in patients with COXPD56 [9]. However, more research is needed to confirm its efficacy and safety.
• Ketogenic Diet: A ketogenic diet has been reported to show favorable outcomes in some cases of COXPD56 [5].
• Valproate: Valproate can be useful in controlling seizures in patients without POLG deficiency, but liver function should be carefully monitored [7].
• Lipoic acid, CoQ10, and creatine monohydrate: A combination of these supplements has been shown to reduce plasma lactic acid content and oxidative stress in some studies [9].

It's essential to note that each patient with COXPD56 may respond differently to these treatment options. Therefore, a personalized approach is crucial to determine the most effective treatment plan for an individual.

References: [5] - Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet ... Combined oxidative phosphorylation deficiency 56, AR, 3 ... [7] - by S DiMauro · 2009 · Cited by 103 — In patients without POLG deficiency, valproate can be useful in controlling seizure, but liver function should be carefully monitored. Other drugs to be used ... [9] - by L Zhang · 2020 · Cited by 29 — Some studies have shown that the combination of lipoic acid, CoQ10 and creatine monohydrate effectively reduces plasma lactic acid content and oxidative stress ...

Combined Oxidative Phosphorylation Deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial respiratory chain [4][5]. COXPD56, specifically, is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis [1].

When considering the differential diagnosis for COXPD56, it's essential to rule out other conditions that may present with similar symptoms. Some of these conditions include:

• Other forms of COXPD: There are several subtypes of COXPD, each caused by mutations in different genes. These subtypes can manifest with varying degrees of severity and distinct clinical features [2][3].
• Mitochondrial encephalomyopathies: Conditions such as MERRF (Myoclonus Epilepsy with Ragged-Red Fibers) or MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) can present with similar neurological symptoms [6].
• Neurometabolic disorders: Conditions like Leigh disease or Pompe disease may also be considered in the differential diagnosis due to overlapping clinical features [7].

To accurately diagnose COXPD56, a comprehensive evaluation of the patient's medical history, physical examination, and laboratory results is necessary. This should include:

• Genetic testing: To identify mutations in the COXPD56-associated gene or other relevant genes.
• Muscle biopsy: To assess mitochondrial function and morphology.
• Mitochondrial DNA analysis: To evaluate for any abnormalities in the mitochondrial genome.

A thorough understanding of these diagnostic approaches will aid in distinguishing COXPD56 from other conditions with similar presentations.