combined oxidative phosphorylation deficiency 57

Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from mild to severe [1]. It is characterized by a combination of symptoms affecting multiple systems in the body, including global developmental delay, hypotonia, short stature, and other systemic features [7].

The disease has its material basis in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12 [4]. This genetic mutation affects the function of mitochondria, which are the energy-producing structures within cells.

Symptoms of COXPD57 can vary widely among affected individuals and may include:

• Global developmental delay
• Hypotonia (low muscle tone)
• Short stature
• Other systemic features

It's worth noting that the disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [5].

Combined oxidative phosphorylation deficiency (COXPD) 57 is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from [8]. The signs and symptoms of COXPD 57 can vary, but they often include:

• Growth retardation: Individuals with COXPD 57 may experience delayed growth and development, leading to short stature [6].
• Microcephaly: Some people with COXPD 57 may have a smaller-than-average head size (microcephaly) [6].
• Hypertonicity: This condition can cause increased muscle tone, leading to stiffness and rigidity in the muscles [7].
• Axial hypotonia: On the other hand, some individuals with COXPD 57 may experience decreased muscle tone in the trunk and limbs (axial hypotonia) [6].
• Encephalopathy: This refers to brain dysfunction, which can manifest as seizures, intellectual disability, or other cognitive impairments [5,8].
• Cardiomyopathy: In some cases, COXPD 57 may lead to heart muscle disease (cardiomyopathy), which can cause symptoms such as shortness of breath, fatigue, and chest pain [5].

It's essential to note that the severity and specific signs and symptoms of COXPD 57 can vary significantly from person to person, even within the same family. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References: [5] - Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from ... [6] - Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, ... [7] - Combined oxidative phosphorylation deficiency 3 is a rare disorder with clinical signs such as hypotonia, lactic acidosis, and hepatic insufficiency. [8] - Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from ...

Combined oxidative phosphorylation deficiency 57 (COXPD57) is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells. Diagnostic tests for COXPD57 are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Tests:

• Genetic testing of the mitochondria can help identify abnormalities in the mitochondrial DNA or genes responsible for oxidative phosphorylation.
• Laboratory studies may show decreased enzyme activity in the affected tissues, such as muscle or liver biopsies.
• Blood tests can reveal elevated levels of lactate and ammonia, which are indicative of mitochondrial dysfunction.

Specific Diagnostic Tests Mentioned:

• Genetic Tests for Combined Oxidative Phosphorylation Deficiency 1 (COXPD1) [3]
• Diagnostic tests (57) [2,6]

These diagnostic tests can help healthcare professionals confirm the diagnosis of COXPD57 and develop a treatment plan tailored to the individual's needs.

References: [1] Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from ... [2] Combined oxidative phosphorylation defect type 11 ... A rare, genetic, mitochondrial oxidative phosphorylation ... Diagnostic tests (57) · Patient organisation(s) ... [3] Clinical Genetic Test offered by Fulgent Genetics for conditions (416): Combined oxidative phosphorylation defect type 8; 2-aminoadipic 2-oxoadipic aciduria ... [4] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 ... Combined oxidative phosphorylation deficiency 57 ... Laboratory studies showed decreased enzyme ... [6] Diagnostic tests. Laboratories · Diagnostic tests ... Combined oxidative phosphorylation defect type 13 ... Diagnostic tests (57) · Patient organisation(s) ...

Treatment Options for Combined Oxidative Phosphorylation Deficiency 57 (COXPD57)

Combined oxidative phosphorylation deficiency 57 (COXPD57) is a rare and severe mitochondrial disease that requires prompt and effective treatment. While there is no cure for COXPD57, various drug treatments can help manage the symptoms and improve the quality of life for affected individuals.

• Sedative drugs: In some cases, sedative drugs may be used to calm the patient and reduce respiratory distress [5].
• Respiratory support: Patients with COXPD57 often require respiratory support, such as mechanical ventilation, to help them breathe [5].
• Other treatments: The use of other treatments, such as valproate, has been reported in patients without POLG deficiency. However, liver function should be carefully monitored when using this medication [8].

Experimental Therapies

Researchers have also explored the potential of experimental therapies, including:

• Pyrvinium: This OXPHOS inhibitor has shown promise in reducing OCR and spheroid hypoxia in vitro [6].
• Canagliflozin: Another OXPHOS inhibitor that may be used as a therapeutic agent [6].

Important Considerations

It is essential to note that the effectiveness of these treatments can vary depending on the individual case, and more research is needed to fully understand their potential benefits and risks.

References:

[5] X Zhang (2024) Combined oxidative phosphorylation deficiency... treatment required sedative drugs and respiratory support. [6] OXPHOS inhibitors studied in vitro with potential as therapeutics; Pyrvinium, Antihelminth · Reduces OCR and spheroid hypoxia at 1 μmol/L; Canagliflozin... [8] S DiMauro (2009) In patients without POLG deficiency, valproate can be useful in controlling seizure, but liver function should be carefully monitored.

Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial respiratory chain [3][4]. When considering the differential diagnosis for COXPD-57, several conditions should be taken into account.

• Mitochondrial Complex II/III Deficiencies: These deficiencies can cause severe hypotonia, lactic academia, and congenital hyperammonemia, which are similar symptoms to those seen in COXPD-57 [7].
• Hepatoencephalopathy due to Combined Oxidative Phosphorylation Deficiency Type 1 (COXPD1): This condition is a recessive mitochondrial translation disorder that can cause liver and brain dysfunction, which may be similar to the symptoms seen in COXPD-57 [10].
• Combined Oxidative Phosphorylation Deficiency-52 (COXPD52): This is an autosomal recessive infantile mitochondrial complex II/III deficiency that can cause severe metabolic decompensation and failure to thrive, which may be similar to the symptoms seen in COXPD-57 [8].
• Metabolic Decompensation: This condition can cause a range of symptoms including lactic acidosis, seizures, and failure to thrive, which are similar to those seen in COXPD-57 [5].

It's worth noting that each case of COXPD is unique and may have distinct characteristics. A thorough diagnostic evaluation by a qualified healthcare professional is necessary to determine the specific cause of symptoms.

References: [3] Combined oxidative phosphorylation deficiency (COXPD) is a severe disorder with early onset and autosomal recessive inheritance, ... [4] Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the ... [7] A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia. [8] Jun 15, 2021 — Combined oxidative phosphorylation deficiency-52 (COXPD52) is an autosomal recessive infantile mitochondrial complex II/III deficiency ... [10] by M Molina‐Berenguer · 2022 · Cited by 12 — Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (COXPD1) is a recessive mitochondrial translation disorder ...