coenzyme Q10 deficiency, primary, 3

Coenzyme Q10 deficiency, primary, 3 is a condition caused by mutations in the PDSS2 gene that disrupt the normal production of coenzyme Q10, a molecule essential for cellular energy production. This condition affects multiple organ systems, with prominent involvement of the kidneys and central nervous system. Affected individuals typically present in infancy with features such as nephrotic syndrome, seizures, and feeding difficulties. Precise prevalence estimates are not well established, and the condition is inherited in an autosomal recessive manner.

The clinical presentation of coenzyme Q10 deficiency, primary, 3 is multi-system and includes consistently reported kidney, neurological, and metabolic features. Renal manifestations include nephrotic syndrome, proteinuria, hypoalbuminemia, and edema, while neurological findings comprise focal motor status epilepticus and bilateral tonic-clonic seizures with focal onset, accompanied by cerebral visual impairment and neonatal hypotonia. In addition, affected individuals exhibit feeding difficulties, an increased circulating lactate concentration, and a documented decrease of coenzyme Q10 levels in skeletal muscle, with imaging studies showing focal T2 hyperintense basal ganglia lesions. Not all individuals experience every clinical feature to the same degree, and severity and symptoms vary widely between individuals.

Coenzyme Q10 deficiency, primary, 3 is directly linked to mutations in the PDSS2 gene, which plays a critical role in the biosynthesis of coenzyme Q10. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited a mutated copy of PDSS2 from each parent who may be asymptomatic carriers. This genetic disruption leads to impaired cellular energy production and the subsequent development of multi-system clinical features. Genetic counseling is recommended for families to better understand the inheritance and recurrence implications.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the individual’s specific needs. Although there are no FDA-approved treatments or established foundational therapies for this condition, a multidisciplinary team approach is essential. Regular surveillance is an integral part of long-term care, helping to monitor kidney function, neurological status, and overall metabolic balance. Patients are encouraged to discuss treatment options and surveillance strategies with their healthcare team, and genetic counseling is recommended to guide families in making informed decisions.

The outlook for individuals with coenzyme Q10 deficiency, primary, 3 is variable, with disease course differing from one individual to another. While many affected individuals face significant challenges early in life, modern supportive care and tailored management strategies have improved long-term outcomes. With ongoing advances in medical care, outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the condition, and genetic counseling can provide further guidance regarding future planning.

Clinical trials are underway exploring new treatment approaches for coenzyme Q10 deficiency, primary, 3. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.