Dietary, cofactor and emergency management of metabolic disease

A 6-month-old infant is reviewed in the metabolic clinic after a newborn-screen diagnosis of glutaric aciduria type 1. The parents are anxious about the diet, the carnitine, and what to do when their daughter gets her next cold. The case walks the candidate through the four pillars of management: the low-lysine and low-tryptophan diet with carnitine supplementation, the importance of the sick-day regimen in preventing acute striatal injury, the monitoring programme (target analytes, growth, micronutrients, bone health), the written emergency letter the family must carry, the complications of over-restriction and of breakthrough decompensation, and the special considerations for a remote family whose nearest metabolic centre is a retrieval away. The candidate is expected to defend the cofactor-responsive disorders in contrast, and the role of liver transplantation in other conditions.