Community
Maple Syrup Urine Disease Type IA
A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that is caused by homozygous or compound heterozygous mutation in the BCKDHA gene, which
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
A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that is caused by homozygous or compound heterozygous mutation in the BCKDHA gene, which
Resources
Join the Maple Syrup Urine Disease Type IA community
Talk with people who understand, share what helps, and find support from others living with maple syrup urine disease type ia. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.