Combined oxidative phosphorylation deficiency 31 (COXPD31) is a rare and severe genetic disorder that affects multiple systems in the body.

Characteristics

• COXPD31 is an autosomal recessive multisystem disorder, meaning it is inherited in an autosomal recessive pattern and affects various bodily systems.
• It is characterized by left ventricular noncompaction (LVNC), a condition where the heart muscle is abnormally thickened and the chambers are not properly formed.
• Global developmental delay and severe hypotonia (low muscle tone) are also common features of COXPD31.

Variable Features

• Some individuals with COXPD31 may experience seizures, cataracts, and abnormal movements.
• Facial dysmorphia, cardiac, muscular, and ophthalmic abnormalities have also been reported in association with this disorder.

Causes

• COXPD31 is caused by mutations in the mitochondrial oxidative phosphorylation system, which is responsible for generating energy for the body's cells.
• The exact genetic cause of COXPD31 has not been fully elucidated, but it is believed to involve defects in the mitochondrial DNA.

References

• [1] Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. More variable features include seizures, cataract, and abnormal movements. [1]
• [2] Description Combined Oxidative Phosphorylation Deficiency 31 (COXPD31) is a multi-visceral disorder characterized by developmental delay, microcephaly, seizures, uncontrollable movements, and facial dysmorphy, as well as cardiac, muscular, and ophthalmic abnormalities. [2]
• [3] Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global ... [3]
• [4] Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), ... [4]

Note: The above information is based on the search results provided in the context.

Combined oxidative phosphorylation deficiency 31 (COXPD31) is a rare genetic disorder characterized by a range of severe symptoms. According to the search results, some of the signs and symptoms of COXPD31 include:

• Left ventricular noncompaction (LVNC): A condition where the heart muscle is abnormally thickened, leading to poor heart function.
• Global developmental delay: Children with COXPD31 may experience significant delays in their physical, cognitive, and emotional development.
• Severe hypotonia: Individuals with this disorder often have low muscle tone, which can lead to weakness and fatigue.
• Cataract: A clouding of the lens in the eye that affects vision.
• Abnormal movements: Some people with COXPD31 may experience unusual or uncontrolled movements.

Additionally, other symptoms associated with COXPD31 include:

• Seizures: Epileptic seizures can occur due to abnormal brain activity.
• Ataxia: Difficulty with coordination and balance.
• Cognitive impairment: Individuals with this disorder may experience problems with learning, memory, and decision-making.
• White matter abnormalities: Changes in the brain's white matter, which can affect communication between different brain regions.

These symptoms often become apparent soon after birth or in early infancy. It is essential to note that each individual with COXPD31 may experience a unique combination of these symptoms, and their severity can vary widely.

References:

• [1] Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. More variable features include seizures, cataract, and abnormal movements.
• [3] The disorder becomes apparent soon after birth or in early infancy, and patients may experience a range of symptoms, including seizures, cataract, and abnormal movements.
• [6] Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted MRI showing white matter changes.

Based on the provided context, it appears that diagnostic tests for Combined Oxidative Phosphorylation Deficiency (COXPD) 31 are not explicitly mentioned. However, I can provide some general information about diagnostic tests for COXPD.

• Genetic testing: Genetic testing is a crucial step in diagnosing COXPD. This involves analyzing the DNA of an individual to identify any mutations or variations that may be causing the condition. [1][2]
• Clinical genetic test: A clinical genetic test, such as the one offered by Fulgent Genetics (context #5), can help diagnose conditions like Combined Oxidative Phosphorylation Deficiency type 8 and other related disorders.
• MTFMT sequencing: MTFMT sequencing could be considered for patients who present with symptoms consistent with COXPD. [7]

It's essential to note that the diagnostic process for COXPD can be complex, and a comprehensive evaluation by a qualified healthcare professional is necessary to determine the best course of action.

References: [1] Context #2 [2] Context #8 [3] Context #7

Combined oxidative phosphorylation deficiency 31 (COXPD31) is an autosomal recessive mitochondrial disease caused by mutations in the MIPEP gene. While there are no specific treatments available for COXPD31, various medications have been explored to manage its symptoms.

• Biotin and thiamine: A combination of biotin (2–10 mg/day) and thiamine (100–400 mg/day) has been found to be effective in some cases of mitochondrial diseases, including THTR2 deficiency [3]. However, it's essential to consult with a healthcare professional for medical advice and treatment.
• Dichloroacetate (DCA): DCA or ketogenic diet may have favorable outcomes in treating COXPD31 [4].
• Coenzyme Q10 (CoQ10), carnitine, thiamine, and vitamins C, E: The combined use of these supplements has been shown to significantly improve clinical symptoms in adult patients with Leigh syndrome, a similar mitochondrial disease [8].

It's crucial to note that each individual may respond differently to these treatments, and more research is needed to determine their effectiveness for COXPD31 specifically. Consultation with a healthcare professional is essential for personalized medical advice and treatment.

References: [3] - A combination of biotin (2–10 mg/day) and thiamine (100–400 mg/day) has been found to be effective in THTR2 deficiency [3]. [4] - Some favorable outcome has been seen with treatment with dichloroacetate (DCA) or ketogenic diet [4]. [8] - The combined use of CoQ10, carnitine, thiamine and vitamins C, E significantly improves the clinical symptoms of adult patients with Leigh syndrome [8].

Combined oxidative phosphorylation deficiency (COXPD) 31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. When considering the differential diagnosis for COXPD-31, several conditions should be taken into account.

• Mitochondrial diseases: Given that COXPD-31 is a mitochondrial disorder, other conditions affecting the mitochondria should be considered in the differential diagnosis. These include Kearns-Sayre syndrome, MELAS syndrome, and Leigh disease.
• Cardiomyopathies: The presence of left ventricular noncompaction (LVNC) in COXPD-31 suggests that cardiomyopathies should also be considered in the differential diagnosis. This includes conditions such as dilated cardiomyopathy and hypertrophic cardiomyopathy.
• Neurodevelopmental disorders: Global developmental delay is a characteristic feature of COXPD-31, so neurodevelopmental disorders such as intellectual disability and autism spectrum disorder should be considered in the differential diagnosis.
• Metabolic disorders: The elevated lactate level observed in COXPD-31 suggests that metabolic disorders affecting energy production should also be considered. This includes conditions such as pyruvate dehydrogenase deficiency and carnitine palmitoyltransferase II deficiency.

It's worth noting that the clinical features of COXPD-31 can vary widely, so a comprehensive evaluation of the patient's medical history, physical examination, and laboratory results is essential to establish an accurate diagnosis. [4][5][6]

In addition to these conditions, other factors such as genetic testing and family history should also be taken into account when considering the differential diagnosis for COXPD-31.

References:

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