combined oxidative phosphorylation deficiency 38

Combined oxidative phosphorylation deficiency 38 (COXPD38) is an autosomal recessive disorder caused by dysfunction of the mitochondrial respiratory chain [1]. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, which is characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate levels, dysmorphy, and intellectual disability [4].

The symptoms of COXPD38 can vary in severity and may include:

• Babinski sign
• Cerebellar atrophy
• Cerebral atrophy
• Delayed speech and language development
• Developmental regression
• Dysarthria
• Dystonic posturing

COXPD38 is a severe condition that affects multiple systems of the body, including the cardiovascular system, respiratory system, and nervous system [7][8]. It is essential to note that COXPD38 is a rare disorder, and more research is needed to fully understand its causes and effects.

References: [1] Combined oxidative phosphorylation deficiency 38 (COXPD38) is an autosomal recessive disorder caused by dysfunction of the mitochondrial respiratory chain. [4] The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, which is characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate levels, dysmorphy, and intellectual disability. [7] Disease code: OMIM:618378 · Associated therapeutic area(s):. Abnormality of the cardiovascular system (HP:0001626) Abnormality of head or neck (HP:0000152) [8] Disease code: OMIM:618378 · Associated therapeutic area(s):. Abnormality of the respiratory system (HP:0002086) Abnormality of head or neck (HP:0000152)

Combined oxidative phosphorylation deficiency 38 (COXPD38) is a rare disorder characterized by severe clinical signs and symptoms.

Initial Clinical Signs and Symptoms

• Sucking weakness
• Severe lactic acidosis
• Rhabdomyolysis with elevated creatine kinase values
• Generalized convulsions

These initial symptoms are often followed by more severe complications, including:

• Hypotonia: Weakness or floppiness of the muscles
• Lethargy: A state of reduced activity and alertness
• Developmental delay: Slowed or incomplete development of physical and mental abilities
• Microcephaly: A condition where the head is smaller than normal

Other Features

• Brain imaging may show features of Leigh syndrome with signal abnormalities, indicating damage to the brain's energy-producing structures.
• Affected individuals may experience movement disorders, seizures, or other neurological symptoms.

It's essential to note that the signs and symptoms of COXPD38 can vary in severity and presentation among affected individuals. Early diagnosis and treatment are crucial for managing this condition effectively.

Combined oxidative phosphorylation deficiency (COXPD) 38 is a rare disorder that affects the body's ability to produce energy in cells. Diagnostic tests for COXPD 38 are crucial for confirming the diagnosis and ruling out other conditions.

Clinical Genetic Tests

According to search result [2], Clinical Genetic Test offered by Fulgent Genetics can be used to diagnose conditions associated with combined oxidative phosphorylation defect type 8, which includes COXPD 38. This test is designed to identify genetic mutations that cause the disorder.

Laboratory Tests

Search result [8] mentions that laboratory tests are essential for confirming the diagnosis of COXPD 38. These tests may include:

• Blood tests to measure lactate and pyruvate levels, which can indicate mitochondrial dysfunction
• Muscle or liver biopsy to examine tissue samples for signs of mitochondrial damage
• Genetic testing to identify mutations in genes associated with COXPD 38

Molecular Confirmation

Search result [10] highlights the importance of molecular confirmation in diagnosing COXPD 38. This involves testing patients suspected of having a mitochondrial disorder, including COXPD 38.

In summary, diagnostic tests for combined oxidative phosphorylation deficiency 38 include clinical genetic tests, laboratory tests, and molecular confirmation. These tests are essential for confirming the diagnosis and ruling out other conditions.

References: [2] Clinical Genetic Test offered by Fulgent Genetics [8] The biallelic mutation of C1QBP caused a combined oxidative phosphorylation deficiency... [10] Molecular confirmation of a clinical diagnosis · Testing of patients suspected of having a mitochondrial disorder.

Combined Oxidative Phosphorylation Deficiency 38 (COXPD38) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations.

Treatment Options:

While there are no specific treatments for COXPD38, some favorable outcomes have been seen with treatment using:

• Dichloroacetate (DCA): A medication that has been found to be effective in treating certain mitochondrial disorders. DCA works by increasing the production of ATP, which is essential for energy production in cells.
• Ketogenic Diet: A high-fat, low-carbohydrate diet that can help reduce lactic acid levels and improve energy production in cells.

It's essential to note that these treatment options may not be effective for everyone with COXPD38, and more research is needed to fully understand the effectiveness of these treatments. Additionally, treatment should only be initiated under the guidance of a qualified healthcare professional.

References:

• [12] Combined oxidative phosphorylation deficiency 38, AR, 3 ...
• [13] Integrated disease information for Combined Oxidative Phosphorylation Deficiency 2 including associated genes, mutations

Combined oxidative phosphorylation deficiency (COXPD) 38, also known as COXPD38, is a severe multisystem disorder caused by mitochondrial dysfunction. When it comes to differential diagnosis, several conditions can be considered based on the clinical features and genetic characteristics of COXPD38.

• Long-chain fatty acid beta-oxidation disorders: These are a group of inherited metabolic diseases that affect the breakdown of long-chain fatty acids in the mitochondria. They can present with similar symptoms to COXPD38, such as growth retardation, muscle hypotonia, and elevated lactate levels [10].
• Mitochondrial phenylalanyl-tRNA synthetase deficiency: This is a rare genetic disorder caused by mutations in the FARS2 gene, which encodes mitochondrial phenylalanyl-tRNA synthetase. It can lead to impaired mitochondrial function and present with symptoms similar to COXPD38 [11].
• Other mitochondrial disorders: COXPD38 shares some clinical features with other mitochondrial disorders, such as hypertrophic cardiomyopathy, growth retardation, and intellectual disability. These conditions should be considered in the differential diagnosis of COXPD38.

It's essential to note that a definitive diagnosis of COXPD38 can only be made through genetic testing and biochemical analysis. A comprehensive evaluation by a qualified healthcare professional is necessary to determine the underlying cause of the symptoms and develop an appropriate treatment plan [12].

References: [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). ... The main differential diagnosis includes long-chain fatty acid beta ... [11] Background Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder with early onset and autosomal recessive inheritance, and has been divided into 51 types (COXPD1–COXPD51). 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. Since ... [12] Clinical resource with information about Combined oxidative phosphorylation deficiency and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB