combined oxidative phosphorylation deficiency 5

Combined Oxidative Phosphorylation Deficiency 5 (COXPD5) is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells.

Causes and Characteristics

COXPD5 is caused by mutations in the MRPS22 gene, which encodes a protein involved in mitochondrial ribosome function. This condition is characterized by severe hypotonia (low muscle tone), lactic acidemia (elevated levels of lactate in the blood), and congenital hyperammonemia (high levels of ammonia in the blood at birth).

Symptoms and Features

The symptoms and features of COXPD5 may include:

• Severe hypotonia
• Lactic acidemia
• Congenital hyperammonemia
• Delayed motor or mental milestones, such as delayed speech and language development
• Global developmental delay

Prevalence and Inheritance

COXPD5 is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The prevalence of COXPD5 is not well established.

References

1. [2] A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-5 (COXPD5) can be caused by homozygous or compound mutations in the MRPS22 gene.
2. A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in mutations in the MRPS22 gene.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date.

Combined Oxidative Phosphorylation Deficiency 5 (COXPD5) is a rare mitochondrial disease characterized by severe symptoms that can vary in severity and presentation.

Common Signs and Symptoms:

• Hypertrophic cardiomyopathy, which is a thickening of the heart muscle that can lead to heart failure [11]
• Tubulopathy, which affects the kidneys and can cause problems with waste removal from the body
• Hypotonia, or low muscle tone, which can affect movement and coordination

Other Possible Symptoms:

• Developmental delay or intellectual disability
• Seizures
• Loss of sensation in the affected areas
• Abnormal muscle tone (increased or decreased)
• Progressive encephalomyopathy or hypertrophic cardiomyopathy [6]

It's essential to note that the severity and presentation of COXPD5 can vary significantly from person to person, even within the same family. The prognosis for individuals with this condition is also dependent on the severity of their symptoms and associated complications.

References: [6] - Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. [11] - Integrated disease information for Combined Oxidative Phosphorylation Deficiency 5 including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources ... hypertrophic cardiomyopathy, tubulopathy, and hypotonia.

Combined oxidative phosphorylation deficiency (COXPD) 5, also known as COXPD56, is a rare mitochondrial disorder characterized by severe hypotonia, developmental delay, and other systemic symptoms.

Diagnostic tests for COXPD56:

• Genetic testing: A genetic test called Next-Generation Sequencing (NGS) can be used to sequence the MRPS22 gene and identify mutations that are associated with this disorder [6].
• Muscle biopsy: Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV, which is a hallmark of COXPD56 [3].
• Clinical Genetic Test: A clinical genetic test offered by Fulgent Genetics can be used to diagnose conditions such as Combined oxidative phosphorylation defect type 8; 2-aminoadipic 2-oxoadipic aciduria, among others [2].

Other diagnostic considerations:

• Lactic acidosis is present in all patients with COXPD56, which can be detected through blood tests.
• Brain imaging may reveal abnormalities, such as those seen in patients with other mitochondrial disorders.

It's worth noting that the diagnosis of COXPD56 and other combined oxidative phosphorylation deficiencies often requires a combination of clinical evaluation, genetic testing, and biochemical analysis. A comprehensive diagnostic approach is essential for accurate diagnosis and management of these rare conditions.

Treatment Options for Combined Oxidative Phosphorylation Deficiency 5

Combined oxidative phosphorylation

Combined oxidative