combined oxidative phosphorylation deficiency 50

Combined Oxidative Phosphorylation Deficiency 50 (COXPD50) is a rare and severe mitochondrial disorder characterized by impaired oxidative phosphorylation, leading to cellular energy deficits.

• Key Features:
  • Intrauterine growth retardation
  • Poor overall growth
  • Delayed psychomotor development
  • Hypertonicity
  • Axial hypotonia
  • Encephalopathy
  • Cardiomyopathy
  • Liver dysfunction
• Causes:
  • COXPD50 is caused by homozygous mutations in the mitochondrial DNA, leading to decreased activity of mitochondrial complex IV.
• Symptoms:
  • Neonatal lactic acidosis
  • Rapidly progressive encephalopathy
  • Severely decreased mitochondrial protein synthesis

References:

• [1] Combined oxidative phosphorylation deficiency-50 (COXPD50) is caused by homozygous mutations in the mitochondrial DNA, leading to decreased activity of mitochondrial complex IV. (#3)
• [2] Features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. (#5)
• [6] A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and ... (#6)

Combined oxidative phosphorylation deficiency (COXPD) 50, also known as MRPS25-related COXPD, is a severe disorder that affects the body's ability to produce energy in cells.

Common signs and symptoms:

• Severe lactic acidosis, which can lead to muscle weakness, fatigue, and shortness of breath [4]
• Rhabdomyolysis, a condition where muscle tissue breaks down, leading to elevated creatine kinase values [14]
• Generalized convulsions or seizures [14]
• Sucking weakness in infants, indicating difficulty with feeding and swallowing [14]

Other possible symptoms:

• Muscle stiffness (spasticity) and decreased range of motion
• Hypotonia, an abnormally low muscle tone
• Developmental regression, including delayed speech and language development

It's essential to note that the severity and presentation of COXPD 50 can vary greatly among individuals. If you or someone you know is experiencing these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [4] - Symptoms include pain, stiffness, and decreased range of motion in the affected joint. Hypotonia is an abnormally low muscle tone (the amount of tension or ... [1] [14] - sucking weakness, and severe lactic acidosis were the initial clinical signs and symptoms, followed by rhabdomyolysis with elevated creatine kinase values. Generalized convulsions ...

Based on the provided context, here are the diagnostic tests for Combined Oxidative Phosphorylation Deficiency 50 (COXPD50):

• Targeted variant analysis: This test is used to identify specific genetic variants associated with COXPD50. It involves analyzing the DNA sequence of select exons in genes related to oxidative phosphorylation.
• Sequence analysis of select exons: This test is similar to targeted variant analysis, but it focuses on sequencing specific exons in genes involved in oxidative phosphorylation.
• Deletion/duplication analysis: This test is used to detect deletions or duplications of genetic material in genes related to oxidative phosphorylation. It can help identify large-scale genetic abnormalities that may contribute to COXPD50.

These diagnostic tests are mentioned in search result [6] as part of the molecular genetics tests for Combined Oxidative Phosphorylation Deficiency 50 (COXPD50).

Combined Oxidative Phosphorylation Deficiency (COPD) 50, also known as Mitochondrial Phenylalanyl-tRNA Synthetase Deficiency, is a rare genetic disorder caused by mutations in the FARS2 gene. The treatment for COPD 50 typically involves supportive care and management of symptoms.

Treatment Options:

• Biotin: Biotin supplementation has been reported to be beneficial in stabilizing the condition.
• Coenzyme Q10 (CoQ10): CoQ10 is an essential coenzyme that plays a crucial role in energy production within cells. Supplementing with CoQ10 may help alleviate symptoms.
• Thiamine: Thiamine, also known as vitamin B1, is necessary for proper energy metabolism. Supplementing with thiamine may be beneficial.
• Dichloroacetate (DCA): DCA has been used to treat metabolic acidosis associated with COPD 50.

Other Considerations:

While these treatments have shown promise in managing symptoms, it's essential to note that each individual's response to treatment may vary. A healthcare professional should be consulted for personalized guidance and care.

The information provided is based on the following search results:

• Combined oxidative phosphorylation deficiency 50: AR: 3: 619025: MRPS25: 611987: 3p14.1: ... IV (56%) of control. The patient's younger sister had severe metabolic acidosis at birth with increased blood lactate. Treatment with biotin, coenzyme Q10, thiamine, and dichloroacetate (DCA) resulted in stabilization.
• Combined oxidative phosphorylation deficiency-10 (COXPD10) is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. ... Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 10. ... 50: MTO1; NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) SNV: Likely Pathogenic: 488553: rs1033653237

Combined oxidative phosphorylation deficiency (COXPD) 50, also known as COXPD50, is a rare mitochondrial disorder caused by mutations in the FARS2 gene. When considering the differential diagnosis for COXPD50, several other conditions should be taken into account.

• Long-chain fatty acid beta-oxidation disorders: These are a group of inherited metabolic diseases that affect the breakdown of fatty acids in the mitochondria. They can present with similar symptoms to COXPD50, such as developmental delay, encephalopathy, and liver dysfunction.
• Coenzyme Q10 deficiency: This is another mitochondrial disorder caused by mutations in the ADCK3 gene. It can lead to a range of symptoms, including muscle weakness, seizures, and developmental delay.
• Mitochondrial DNA depletion syndrome: This is a group of disorders caused by mutations in the POLG gene, which affects the replication of mitochondrial DNA. Symptoms can include encephalopathy, liver dysfunction, and muscle weakness.

It's essential to note that COXPD50 has been distinguished from other forms of combined oxidative phosphorylation deficiency due to its specific genetic cause (FARS2 mutation) [1]. However, when considering differential diagnoses, these conditions should be taken into account due to their overlapping symptoms.

References:

[1] # A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-50 (COXPD50) is caused by homozygous mutations in the FARS2 gene. [5] [2] 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-oxidation disorders. [11] [3] Coenzyme Q10 deficiency, primary, 4: 612016: ADCK3: Combined oxidative phosphorylation deficiency 1: 609060: GFM1: Combined oxidative phosphorylation deficiency 2: 610498: MRPS16: Combined oxidative phosphorylation deficiency 4: 610678: TUFM: Mitochondrial DNA depletion syndrome: 203700: POLG 4A, 4B and recessive ataxia syndrome: 613662: 607459 [12]