combined oxidative phosphorylation deficiency 28

Combined oxidative phosphorylation deficiency 28 is a condition that disrupts the body’s ability to produce energy efficiently due to impaired mitochondrial function. The disorder is caused by mutations in the SLC25A26 gene, which plays a critical role in mitochondrial transport processes. Affected individuals are typically identified early, often during the neonatal period when metabolic challenges appear. This condition is very rare, affecting fewer than 1 in 1,000,000 people.

Clinical features associated with combined oxidative phosphorylation deficiency 28 include an increased circulating pyruvate concentration and generalized hypotonia, noted in a subset of affected individuals. These findings represent some of the more frequently observed abnormalities; however, not all individuals experience every symptom and severity varies considerably. Although not all characteristic findings have been delineated, the presence of these biochemical and neuromuscular features often prompts further evaluation.

This condition is caused by mutations in the SLC25A26 gene, which encodes a protein essential for the transport of molecules necessary for proper mitochondrial function. It is inherited in an autosomal recessive pattern, meaning that an affected individual must receive a mutated copy of the gene from each parent. This condition is more common when parents share a common ancestor, as the likelihood of both carrying the same rare genetic variant increases. Genetic counseling is recommended to help families understand the inheritance pattern and discuss family planning options.

Currently, management of combined oxidative phosphorylation deficiency 28 focuses on supportive care and symptom management because there are no specific approved treatments for this condition. Treatment is tailored to each individual and typically involves a multidisciplinary team that may include metabolic specialists, physical therapists, and nutrition experts. Patients should discuss treatment options with their healthcare team to determine which supportive interventions may be most appropriate, and genetic counseling is recommended to assist with family planning and further guidance.

Outcomes for individuals with combined oxidative phosphorylation deficiency 28 vary widely depending on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, supportive management may help alleviate symptoms and improve quality of life, although some individuals may continue to face significant challenges. The condition may progress, stabilize, or follow a variable course in different individuals. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with genetic counselors and specialists familiar with mitochondrial disorders.