We are pleased to share the findings of our latest research “The Lived Experience of Molybdenum Cofactor Deficiency Type A”. 

In this report, we share important findings from a survey conducted among the molybdenum cofactor deficiency (MoCD) type A community, to better understand their lived experience of the condition and to increase the evidence base.  

Between January and April 2024, we surveyed the MoCD type A community on their experience with: 

• Diagnosis
• Daily living 
• Treatment and management
• Perspectives on new treatment

We also surveyed parents/carers to gain insight into their lived experience of caring for someone with the condition. 

• Diagnostic journey:  diagnosis of MoCD Type A typically occurs within the first 4 weeks of life, with confirmation, on average, 3 days after the onset of symptoms.
• Daily life: management of MoCD Type A is intensive and highly demanding, requiring coordinated care from multiple healthcare professionals and significant parental involvement.
• Treatment and challenges: caregivers face difficulties with medication accessibility, additional costs, and limited scope of available interventions. The new treatment, Nulibry®, raises hope and shows promise.
• Caregiver perspectives: parents experience emotional and physical stress, yet highlight the importance of supportive networks and therapies beyond medication.
• Future needs: addressing gaps in care (e.g., earlier testing, better support for parents, broader access to therapies) and more comprehensive and accessible treatments to reduce the burden on families.
• Future research: should expand on the current research to create a broader evidence base of the lived experience of MoCD type A.

Metabolic Support UK would like to thank the members of the MoCD type A community for their participation in the survey and providing valuable input. Their contribution helps us share their voice, increases the evidence base for MoCD type A, and also contributes to shaping our future support.