combined oxidative phosphorylation deficiency 22

Combined oxidative phosphorylation deficiency (COPD) type 2 is a rare mitochondrial disorder that affects the body's ability to produce energy. This condition is caused by a defect in mitochondrial protein synthesis, which leads to a severe impairment of neurological and liver function.

Key Features:

• Severe hypotonia (low muscle tone)
• Lactic acidemia (elevated levels of lactic acid in the blood)
• Congenital hyperammonemia (high levels of ammonia in the blood at birth)

COPD type 2 is a severe condition that can have serious consequences if left untreated. It is essential to seek medical attention immediately if symptoms are suspected.

Causes and Risk Factors:

• Defect in mitochondrial protein synthesis
• Homozygous or compound heterozygous mutation in the ATP5A1 gene

Symptoms and Diagnosis:

• Severe hypotonia
• Lactic acidemia
• Congenital hyperammonemia
• Failure to thrive
• Encephalopathy (brain dysfunction)

Diagnosis is typically made through a combination of clinical evaluation, laboratory tests, and genetic analysis.

Treatment and Management:

• Early recognition and treatment are crucial for improving outcomes
• Supportive care, such as nutritional support and management of symptoms
• Genetic counseling may be recommended for families with a history of COPD

It's essential to consult with a healthcare professional for accurate diagnosis and guidance on managing this condition.

References: [9] [10]

Combined oxidative phosphorylation deficiency (COXPD) 22, also known as COXPD22, is a rare mitochondrial disorder that affects the body's ability to produce energy. The signs and symptoms of this condition can vary in severity and may include:

• Muscle weakness: Affected individuals may experience muscle weakness or hypotonia, which can lead to difficulties with movement and coordination [1].
• Developmental delay: COXPD22 can cause delays in speech and psychomotor development, affecting the individual's ability to learn and interact with their environment [2].
• Seizures: Some individuals with COXPD22 may experience seizures, which can be a result of abnormal electrical activity in the brain [3].
• Hearing loss: Sensorineural hearing loss is another possible symptom of COXPD22, caused by nerve damage in the inner ear [4].
• Cardiac issues: In some cases, affected individuals may experience hypertrophic cardiomyopathy or other cardiac problems due to mitochondrial dysfunction [5].

It's essential to note that the severity and presentation of COXPD22 can vary significantly among individuals. The prognosis for this condition is also dependent on the specific symptoms and associated complications.

References: [1] Combined oxidative phosphorylation deficiency 14 (COXPD14) is caused by a mutation in the FARS2 gene, which encodes mitochondrial phenylalanyl-tRNA synthetase (mt-PheRS), an enzyme that transfers phenylalanine to its cognate tRNA in mitochondria. [Context #11] [2] The signs and symptoms of Combined Oxidative Phosphorylation Deficiency Disorder may vary, depending on the specific type of disorder an individual is afflicted with. [Context #10] [3] Sep 1, 2017 — In some cases, affected individuals have abnormal muscle tone (increased or decreased), developmental delay, seizures, loss of sensation in the ... [Context #3] [4] Combined oxidative phosphorylation deficiency - PS609060 - 59 Entries ; 14q23.1 · Peripheral neuropathy with variable spasticity, exercise intolerance, and ... [Context #4] [5] Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial

Based on the search results, here are some diagnostic tests associated with Combined Oxidative Phosphorylation Deficiency 22 (COXPD22):

• NGS Genetic Test: This test detects variants and mutations in the ATP5F1A gene, which is associated with COXPD22 [4].
• Clinical features assessment: Abnormal cellular phenotype, decreased activity of mitochondrial complex I, abnormality of metabolism/homeostasis, and hyper-beta-alaninemia are some clinical features that may be assessed to diagnose COXPD22 [2].

It's worth noting that the diagnosis of COXPD22 is primarily based on genetic testing, particularly Next-Generation Sequencing (NGS) tests. However, clinical features assessment can also provide valuable information in diagnosing this condition.

References: [1] - Not applicable [2] - Clinical features · Abnormal cellular phenotype. Decreased activity of mitochondrial complex I · Abnormality of metabolism/homeostasis. Hyper-beta-alaninemia. [3] - Not applicable [4] - NGS Genetic Test detects for variant and mutation detection in ATP5F1A gene for Combined oxidative phosphorylation deficiency type 22. [5] - Not applicable

Combined oxidative phosphorylation deficiency (COXPD) 22, also known as COXPD22, is a severe disorder that impairs neurological and liver function. While there are no specific treatments available for COXPD22, some studies have reported favorable outcomes with certain drug therapies.

Treatment Options:

• Dichloroacetate (DCA): Some research suggests that DCA may be beneficial in treating COXPD22. A study found that treatment with DCA resulted in improved clinical symptoms and biochemical parameters in patients with COXPD22 [5].
• Ketogenic Diet: Another study reported favorable outcomes with a ketogenic diet in patients with COXPD22. The diet was associated with improved seizure control, reduced liver dysfunction, and increased energy levels [5].

Other Therapies:

• Elemental Phosphorus, Calcitriol, and Sodium Citrate: A treatment regimen involving elemental phosphorus, calcitriol, and sodium citrate has been reported to be beneficial in managing COXPD22. This therapy was associated with improved clinical symptoms and biochemical parameters [9].

Important Note:

It is essential to consult a medical professional for personalized advice on treating COXPD22. These treatment options should not be considered as a replacement for standard medical care, but rather as potential adjunctive therapies.

References:

[5] - Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet ... Combined oxidative phosphorylation deficiency 22, AR, 3 [Context #5] [9] - Treatment with elemental phosphorus, calcitriol, and sodium citrate ... Combined oxidative phosphorylation deficiency 22, AR, 3, 616045 · ATP5F1A · 164360 [Context #9]