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Combined Oxidative Phosphorylation Deficiency 13
A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that is caused by homozygous or compound heterozygous mutation in the PNPT1 gene
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When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that is caused by homozygous or compound heterozygous mutation in the PNPT1 gene
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.