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Fumarase Deficiency
An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that is caused by homoz
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
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
An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that is caused by homoz
Resources
Join the Fumarase Deficiency community
Talk with people who understand, share what helps, and find support from others living with fumarase deficiency. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.