5th February 2024

A 7-month-old female presents with seizures 2 hours post her last feed.

A 7-month-old female presents with seizures 2 hours post her last feed. Her mother states that she had missed her lunchtime feed, and the seizures began as she was preparing her meal. Glucose levels on admission were 1.2mmol/L with elevated ketones. Raised urate, cholesterol, triglyceride levels, and anaemia were noted. A liver biopsy reveals prominent glycogen storage within the liver with prominent steatosis and minimal fibrosis. 

Which of the following enzymes are affected?