Resources

Clinical guidelines

• Hyperammonaemia
• Enzyme replacement therapy monitoring
• Hypoglycaemia investigation
• Muscle and skin biopsies in theatre
• Skin biopsies on the ward

Metabolic charities and support networks

• British Inherited Metabolic Diseases Group
• National MPS Society
• Climb
• Metabolic support UK
• The National Society for Phenylketonuria
• The Association for Glycogen Storage Disease UK
• The Batten Disease Family Association
• Cure & Action for Tay-Sachs Foundation
• Gauchers Association
• NPUK
• Save Babies Through Screening Foundation UK
• Freya foundation
• Lilly foundation
• Cambell burns
• CDG UK
• Jessie May

How to Perform a Heel Prick Bloodspot Test

This video will guide you on how to perform a heel prick blood spot for PKU and HCU monitoring. (Link opens in YouTube.)

How to Perform a Finger Prick Blood Spot Test

This video will guide you on how to perform a finger prick blood spot for PKU and HCU monitoring.

How to perform a Blood Glucose Test

This video will guide you on how to perform a blood glucose level as part of your child's monitoring.

How to Perform a Blood Glucose & Ketone Test

This video will guide you on how to perform a blood glucose and blood ketone level as part of your child's monitoring.