Citrin Deficiency

How is CD managed?

• Lactose-free formula / diet for the first year of life
• Low carbohydrate, high protein and high fat diet
• Medium-chain triglycerides (MCT) oil supplementation

Growth, development, intelligence quotient and general health are expected to be normal when treatment is started during infancy.

Ongoing follow-up throughout life is required to ensure continued good health through early detection of complications.

Is there any monitoring required?

Your child will undergo regular clinical assessments for growth, and periodic investigations by your doctor with the following assessments.

• Liver function test
• Ammonia, plasma
• Amino acid, plasma
• Lipid panel
• Galactose (< 1 year old)
• Ultrasound hepatobiliary system / abdomen