Community
Neonatal-Onset Type II Citrullinemia
A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that is caused by homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
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 citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that is caused by homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Resources
Join the Neonatal-Onset Type II Citrullinemia community
Talk with people who understand, share what helps, and find support from others living with neonatal-onset type ii citrullinemia. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.