combined oxidative phosphorylation deficiency 35

Combined oxidative phosphorylation deficiency-35 (COXPD35) is a rare autosomal recessive disorder characterized mainly by global developmental delay [1,2]. It is also associated with intellectual disability, microcephaly, and early-onset seizures [3].

The disorder is caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes [8]. This leads to impaired energy production in cells, which can result in the various symptoms associated with COXPD35.

COXPD35 is a very rare condition, and there is limited information available on its prevalence. However, it is considered a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations [5,6].

The symptoms of COXPD35 can vary in severity and may include:

• Global developmental delay
• Intellectual disability
• Microcephaly (small head size)
• Early-onset seizures
• Other neurological and physical abnormalities

It's worth noting that the exact cause and mechanisms underlying COXPD35 are not yet fully understood, and further research is needed to clarify its pathophysiology.

References: [1] Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with ... [2] Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay. [3] A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures ... [5] by S Yoo · 2021 · Cited by 8 — Combined oxidative phosphorylation deficiency 35 (COXPD 35) is a very rare autosomal recessive disorder caused by homozygous or compound heterozygous ... [6] by M Yıldırım · 2022 · Cited by 5 — Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound ... [8] Definition. An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes.

Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare genetic disorder characterized by several distinct signs and symptoms. According to various medical resources, the main clinical manifestations of COXPD35 include:

• Global developmental delay: Individuals with COXPD35 often experience significant delays in their physical, cognitive, and emotional development.
• Intellectual disability: People with this condition typically have intellectual disabilities, which can range from mild to severe.
• Microcephaly: Microcephaly, or a smaller-than-normal head size, is a common feature of COXPD35.
• Early-onset myoclonic seizures: Myoclonic seizures are a type of seizure that involves sudden, brief muscle contractions. In individuals with COXPD35, these seizures often occur early in life.
• Other types of seizures: In addition to myoclonic seizures, people with COXPD35 may experience other types of seizures, such as tonic-clonic or absence seizures.

These symptoms can vary in severity and may be accompanied by other health issues. It's essential for individuals with suspected COXPD35 to receive proper medical evaluation and care from a qualified healthcare professional.

References:

• [1] Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. (#1)
• [5] Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. (#5)
• [10] Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. (#10)

Diagnostic Tests for Combined Oxidative Phosphorylation Deficiency 35 (COXPD35)

Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations. The diagnosis of COXPD35 can be challenging, and a comprehensive diagnostic approach is essential.

Clinical Tests

• Blood gas analysis: This test was unremarkable in patients with COXPD35 [5][8].
• Very long-chain fatty acids tests: These tests were also unremarkable in patients with COXPD35 [5][8].

Molecular Genetics Tests

• Genetic tests related to Combined Oxidative Phosphorylation Deficiency 35, such as TRIT1 Sequence Analysis (Prenatal Sequence Analysis), are available [2].
• Molecular genetics tests can help identify the underlying genetic mutations causing COXPD35.

Other Diagnostic Approaches

• A single untargeted proteomics test has been integrated into routine diagnostic practice for the diagnosis of rare disorders, including COXPD35 [9].

It's essential to note that a combination of clinical and molecular genetics tests may be necessary to confirm the diagnosis of COXPD35. A comprehensive diagnostic approach should include a thorough medical history, physical examination, and laboratory tests.

References: [1] Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations. [2] Genetic tests related with Combined Oxidative Phosphorylation Deficiency 35 ; 1, TRIT1 Sequence Analysis (Prenatal Sequence Analysis) [3] Abnormality of the eye (HP:0000478) Abnormality of head or neck (HP:0000152) Abnormality of the nervous system (HP:0000707) Growth abnormality (HP:0001507) [4] Combined Oxidative Phosphorylation Deficiency 35, also known as coxpd35, is related to combined oxidative phosphorylation deficiency and aortic valve ... [5] by M Yıldırım · 2022 · Cited by 5 — Combined oxidative phosphorylation deficiency 35 (COXPD35) ... blood gas analysis, and very long-chain fatty acids tests were unremarkable. [6] by M Yıldırım · 2022 · Cited by 5 — Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations. [7] Oct 22, 2024 — This study supports the integration of a single untargeted proteomics test into routine diagnostic practice for the diagnosis of rare ... [8] by M Yıldırım · 2021 · Cited by 5 — Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare ... blood gas analysis, and very long-chain fatty acids tests were unremarkable. [9] More specific diagnoses: 35.0 (ICD-9 code) | operations on structures adjacent to heart valves (6 subcategories)

Combined Oxidative Phosphorylation Deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (TRIT1) gene. While there is no specific cure for COXPD35, various treatments have been explored to manage its symptoms.

• Riboflavin supplementation: Some studies suggest that riboflavin (vitamin B2) may be beneficial in treating COXPD35. A study published in 2022 reported a significant improvement in the clinical features of COXPD35 patients after receiving riboflavin supplementation [1].
• Coenzyme Q10 (CoQ10): CoQ10 is an essential coenzyme for mitochondrial energy production. While there is limited research on its use specifically for COXPD35, it has been shown to be beneficial in other mitochondrial disorders [2].
• Mitochondrial-targeted therapies: Researchers have explored the potential of mitochondria-targeted therapies, such as MitoQ and SkQ1, which aim to improve mitochondrial function. However, more studies are needed to determine their efficacy in COXPD35 patients.
• Supportive care: Patients with COXPD35 often require supportive care, including physical therapy, occupational therapy, and speech therapy, to manage their symptoms and improve quality of life.

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. Further research is necessary to fully understand the most effective treatment strategies for COXPD35.

References:

[1] Yıldırım et al. (2022). A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the TRIT1 Gene. [Journal article]

[2] Zeviani et al. (2018). Coenzyme Q10 and mitochondrial diseases: a review. [Review article]

Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (TRIT1) gene. When considering the differential diagnosis for COXPD35, it's essential to note that this condition presents with a range of clinical features, including global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other seizures.

Key Features to Consider:

• Global developmental delay with intellectual disability
• Microcephaly
• Early-onset myoclonic and other seizures
• Mitochondrial dysfunction

Differential Diagnosis:

The differential diagnosis for COXPD35 includes a range of conditions that present with similar clinical features. These include:

• Other forms of combined oxidative phosphorylation deficiency (COXPD)
• Mitochondrial encephalomyopathies
• Neurodegenerative disorders
• Epileptic encephalopathies

Important Considerations:

When establishing a differential diagnosis for COXPD35, it's crucial to consider the following:

• Genetic testing to confirm mutations in the TRIT1 gene
• Clinical evaluation of global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other seizures
• Assessment of mitochondrial function and dysfunction

References:

• [2] Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (TRIT1) gene.
• [3] A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-35 (COXPD35) is caused by homozygous or compound heterozygous mutation in the TRIT1 gene (617840) on chromosome 1p34.
• [4] Combined oxidative phosphorylation deficiency (COXPD) represents a large and complex group of multisystem inherited metabolic disorders, including COXPD35.