combined oxidative phosphorylation deficiency 41

Combined oxidative phosphorylation deficiency 41 (COXPD41) is a rare and severe mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, and other systemic abnormalities.

Clinical Features:

• Abnormality of blood and blood-forming tissues
  • Anemia [1]
• Abnormality of metabolism/homeostasis
  • Elevated circulating creatine kinase [2]
• Increased size of the heart (hypertrophic cardiomyopathy) [5]

Genetic Basis: COXPD41 is caused by compound heterozygous or homozygous mutations in the GATB gene on chromosome 3 [6, 8]. This genetic defect affects the mitochondrial oxidative phosphorylation system, leading to a range of systemic abnormalities.

Description:

• COXPD41 is an autosomal recessive disorder [3, 4]
• Prenatal onset and fetal hydrops are characteristic features [3, 4]

It's essential to note that 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 system (OXPHOS). COXPD results from pathogenic variants in nuclear genes involved with OXPHOS, leading to a range of systemic abnormalities [13].

References: [1] - Abnormality of blood and blood-forming tissues [2] - Abnormality of metabolism/homeostasis [3] - An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, ... [4] - An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, ... [5] - Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the ... [6] - A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-41 (COXPD41) is caused by compound ... [7] - combined oxidative phosphorylation deficiency 41 ; Description. No info ; Heritability ; Causal Genes. GATB ; Also Known As. COMBINED OXIDATIVE PHOSPHORYLATION ... [8] - Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on ...

Combined oxidative phosphorylation deficiency 41 (COXPD41) is a severe condition that primarily impairs neurological and liver function. The signs and symptoms of COXPD41 can vary, but they often include:

• Mild global developmental delay: Individuals with COXPD41 may experience mild delays in their physical, cognitive, and emotional development [6].
• White matter abnormalities: Magnetic resonance imaging (MRI) scans may show white matter abnormalities in the brain, which can affect motor skills and coordination [6].
• Ataxia and incoordination: People with COXPD41 may experience difficulties with balance, coordination, and movement [6].
• Speech and reading difficulties: Some individuals with COXPD41 may struggle with speech and language development, as well as reading and writing skills [6].

It's essential to note that the severity of these symptoms can vary depending on the individual and the specific type of COXPD41 they have. In some cases, the condition may be more severe, leading to significant developmental delays or even life-threatening complications.

References:

[1] Combined oxidative phosphorylation deficiency 41. Term ID: DOID:0112119; Synonyms. COXPD41. Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 14q13.2 [5].

[6] Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted MRI showing white matter changes [6].

Available Diagnostic Tests for Combined Oxidative Phosphorylation Deficiency 41

Combined oxidative phosphorylation deficiency 41 (COXPD41) is a severe condition that primarily impairs neurological and liver function. To diagnose this condition, several clinical tests can be performed.

• Molecular Genetics Tests: Deletion/duplication analysis is one of the available molecular genetics tests for COXPD41. This test helps identify genetic mutations associated with the condition.
• Genetic Tests: Genetic testing can be used to confirm a diagnosis of COXPD41. This involves analyzing DNA samples from affected individuals or family members to identify specific gene mutations.
• Clinical Genetic Test: A clinical genetic test offered by Fulgent Genetics can also be used to diagnose COXPD41. This test analyzes DNA samples for various conditions, including combined oxidative phosphorylation defects.

Laboratory Studies

In addition to genetic testing, laboratory studies may also be performed to support a diagnosis of COXPD41. These studies may include:

• Increased serum lactate: Elevated levels of lactate in the blood can indicate impaired oxidative phosphorylation.
• Increased serum creatine kinase: High levels of creatine kinase in the blood can suggest muscle damage or dysfunction.
• Abnormal liver enzymes: Liver enzyme abnormalities can indicate liver dysfunction, which is common in COXPD41.

Diagnostic Codes

The International Classification of Diseases (ICD-9) codes for COXPD41 include:

• 41.0: Bone marrow or hematopoietic stem cell transplant
• 41.1: Puncture of spleen
• 41.2: Splenotomy
• 41.3: Diagnostic procedures on bone marrow and spleen
• 41.4: Excision or destruction of lesion or tissue of spleen
• 41.5: Total splenectomy
• 41.9: Other operations on spleen and bone marrow

These diagnostic codes can be used to identify relevant medical records, research studies, or clinical guidelines related to COXPD41.

References

1. [8] Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 2.
2. [9] Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
3. [10] 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.

Note: The references provided are based on the context information retrieved from a search engine.

Combined Oxidative Phosphorylation Deficiency (COPD) 41 is a severe disorder that affects the mitochondria's ability to produce energy for the body. While there is no cure for COPD, various treatments can help manage its symptoms and improve quality of life.

Treatment Options:

• Biotin: Biotin supplementation has been shown to be beneficial in some cases of COPD 41. It plays a crucial role in energy production and can help alleviate symptoms.
• Coenzyme Q10 (CoQ10): CoQ10 is an essential coenzyme that helps generate energy in cells. Supplementing with CoQ10 may help improve energy levels and reduce fatigue.
• Thiamine: Thiamine, also known as vitamin B1, can increase the activity of pyruvate dehydrogenase, thus enhancing the oxidative decomposition of pyruvate. This can be beneficial in managing symptoms associated with COPD 41.
• Dichloroacetate (DCA): DCA has been used to treat some cases of COPD 41. It works by increasing energy production and reducing lactic acid levels.

Other Considerations:

While these treatments may provide some relief, it's essential to note that each individual's response to treatment can vary greatly. A healthcare professional should be consulted to determine the best course of action for a specific case of COPD 41.

The information provided on this topic is based on search results and should not be considered as medical advice. Consult a qualified healthcare professional for personalized guidance and care.

Combined oxidative phosphorylation deficiency (COXPD) 41 is a rare mitochondrial disease caused by mutations in the FARS2 gene, which encodes mitochondrial phenylalanyl-tRNA synthetase (mt-PheRS). The differential diagnosis for COXPD 41 includes other conditions that present with similar clinical features.

Conditions to consider:

• Long-chain fatty acid beta-oxidation disorders: These disorders can also cause severe metabolic crises, encephalopathy, and liver dysfunction, making them a consideration in the differential diagnosis of COXPD 41 [12].
• Mitochondrial myopathies: Conditions such as Kearns-Sayre syndrome and MELAS syndrome can present with similar clinical features, including muscle weakness, encephalopathy, and lactic acidosis [15].
• Other mitochondrial diseases: Conditions like NARP (neuropathy, ataxia, and retinitis pigmentosa) and MERRF (myoclonus epilepsy with ragged-red fibers) can also be considered in the differential diagnosis of COXPD 41 due to overlapping clinical features [10].
• Other metabolic disorders: Conditions like Pompe disease and Hurler syndrome can present with similar clinical features, including developmental delay, encephalopathy, and liver dysfunction [11].

Key distinguishing features:

• The presence of elevated lactate levels and mitochondrial dysfunction are key features that distinguish COXPD 41 from other conditions.
• The specific genetic mutation in the FARS2 gene is also a critical diagnostic feature.

It's essential to note that the differential diagnosis for COXPD 41 can be complex, and a comprehensive evaluation by a multidisciplinary team of experts, including geneticists, neurologists, and pathologists, may be necessary to establish an accurate diagnosis.