combined oxidative phosphorylation deficiency 47

Combined oxidative phosphorylation deficiency 47 (COXPD47) is an autosomal recessive mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties, and other severe symptoms [2]. It is caused by a homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13 [5].

The disease has_material_basis_in this genetic mutation, which affects the mitochondrial oxidative phosphorylation system [7]. This leads to a range of severe symptoms, including:

• Intrauterine growth retardation
• Swallowing difficulties
• Abnormalities of the ear, genitourinary system, and head or neck [9]

COXPD47 is a rare and severe condition that primarily impairs neurological and liver function. It is essential to note that this information is based on the provided context and may not be comprehensive or up-to-date.

References: [2] Combined oxidative phosphorylation deficiency 47 is an autosomal recessive mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties, and other severe symptoms. [5] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS28 on chromosome 8q21.13. [7] Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene. [9] Abnormality of the ear (HP:0000598) Abnormality of the genitourinary system (HP:0000119) Abnormality of head or neck (HP:0000152)

Combined oxidative phosphorylation deficiency 47 (COXPD47) is a rare mitochondrial disease that affects the body's ability to produce energy. The signs and symptoms of COXPD47 can vary in severity and may include:

• Hypotonia: Weakness or floppiness of muscles, particularly in infancy [1].
• Lactic acidosis: Elevated levels of lactic acid in the blood, which can lead to metabolic acidosis [5].
• Hepatic insufficiency: Liver dysfunction, which can cause a range of symptoms including jaundice, ascites, and coagulopathy [2].
• Progressive encephalomyopathy or hypertrophic cardiomyopathy: These are serious complications that can occur in some individuals with COXPD47, leading to severe brain damage or heart problems [3].

It's worth noting that the severity and progression of symptoms can vary widely among affected individuals. In some cases, the disease may be mild, while in others it can be life-threatening.

References:

[1] Combined oxidative phosphorylation deficiency-47 (COXPD47) is caused by a homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 14q13.2 [4].

[2] Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy [3].

[3] See: Condition [2].

[4] Jul 20, 2020 — A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-47 (COXPD47) is caused by ...

Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder that requires early and accurate diagnosis to ensure proper management and treatment. Diagnostic tests for COXPD can vary depending on the specific subtype and severity of the condition, but here are some common tests associated with COXPD type 47:

• Targeted variant analysis: This test involves analyzing specific genes or genetic variants associated with COXPD (12). It's a targeted approach that helps identify the underlying genetic cause of the disorder.
• Deletion/duplication analysis: This test is used to detect deletions or duplications in the DNA sequence, which can be associated with COXPD (30).
• Sequence analysis of the entire coding region: This comprehensive test analyzes the entire coding region of a gene to identify any mutations or variations that may contribute to COXPD (52).

These diagnostic tests are essential for identifying the specific subtype of COXPD and developing an effective treatment plan. Early diagnosis can significantly improve outcomes and quality of life for individuals with this condition.

References: * [12] Molecular Genetics Tests · Targeted variant analysis * [30] Molecular Genetics Tests · Deletion/duplication analysis * [52] Molecular Genetics Tests · Sequence analysis of the entire coding region

Combined Oxidative Phosphorylation Deficiency 47 (COXPD47) is a severe disorder that affects the body's ability to produce energy in cells. While there are no specific FDA-approved drugs for treating COXPD47, various treatments have been explored and reported in medical literature.

According to search results [3], treatment with biotin, coenzyme Q10, thiamine, and dichloroacetate (DCA) has resulted in stabilization of the condition. However, it's essential to note that these treatments may not be universally effective for all patients with COXPD47.

Other drugs have been investigated as potential therapeutic options for mitochondrial diseases, including COXPD47. For example, metformin, arsenic trioxide, and atovaquone have been repurposed as potential treatments [8]. However, more research is needed to confirm their efficacy and safety in treating COXPD47.

In some cases, valproate may be used to control seizures associated with COXPD47, but careful monitoring of liver function is necessary due to the risk of liver damage [5].

It's also worth noting that combined treatment approaches have been explored for other forms of mitochondrial diseases. For instance, a combination of oral metronidazole and N-acetylcysteine has been reported as a potential therapeutic strategy for Combined Oxidative Phosphorylation Deficiency 6 (COXPD6) [13].

In summary, while there is no single FDA-approved drug specifically for treating COXPD47, various treatments have been explored and reported in medical literature. Further research is needed to confirm the efficacy and safety of these potential therapeutic options.

References: [3] - Treatment with biotin, coenzyme Q10, thiamine, and dichloroacetate (DCA) has resulted in stabilization. [5] - Valproate may be used to control seizures associated with COXPD47. [8] - Metformin, arsenic trioxide, and atovaquone have been repurposed as potential treatments for mitochondrial diseases. [13] - Combined treatment with oral metronidazole and N-acetylcysteine has been reported as a potential therapeutic strategy.

Combined oxidative phosphorylation deficiency (COXPD) 47, also known as COXPD47, is a rare and severe disorder that affects the mitochondria's ability to produce energy for the body.

Differential diagnosis:

The differential diagnosis for COXPD47 includes other mitochondrial disorders that affect the respiratory chain and oxidative phosphorylation system. Some of these conditions include:

• Long-chain fatty acid beta-oxidation defects: These are a group of disorders that affect the breakdown of long-chain fatty acids, which can lead to similar symptoms as COXPD47.
• Mitochondrial translation defects: These are disorders that affect the process by which mitochondria translate their own DNA into proteins, leading to impaired energy production and similar symptoms to COXPD47.
• Other mitochondrial respiratory chain complex deficiencies: Deficiencies in other mitochondrial respiratory chain complexes, such as Complex II (succinate dehydrogenase), Complex III (cytochrome b-c1 complex), or Complex IV (cytochrome oxidase), can also be considered in the differential diagnosis of COXPD47.

Key features to consider:

When considering a differential diagnosis for COXPD47, it is essential to look for key features such as:

• Early onset: COXPD47 typically presents with early-onset symptoms, often within the first few months or years of life.
• Severe developmental delay: Affected individuals may experience severe developmental delays, including delayed motor skills and cognitive impairment.
• Elevated lactate levels: Elevated lactate levels are a common feature in COXPD47, indicating impaired energy production.
• Muscle weakness and hypotonia: Muscle weakness and hypotonia (low muscle tone) are also characteristic features of COXPD47.

References:

• [5] Combined defects are found in 49 % of the known disease-causing genes of mitochondrial energy metabolism and in 57 % of patients with OXPHOS defects.
• [10] Combined oxidative phosphorylation deficiency (COXPD) represents a large and complex group of multisystem inherited metabolic diseases due to genetically determined defects involving primarily the mitochondrial oxidative phosphorylation (respiratory) system (OXPHOS).
• [11] The respiratory chain (complexes I–IV) and oxidative phosphorylation (OXPHOS) system (complexes I–V) are embedded in the inner mitochondrial membrane and are responsible for ATP production by aerobic metabolism.
• [12] Individuals with combined oxidative phosphorylation deficiency 1 usually do not survive past early childhood, although some people live longer.