Metabolic Presentations

Presentations driven by accumulation, deficiency, or organelle dysfunction. Coarse facial features, hepatosplenomegaly, hypoglycemia, hyperammonemia, metabolic acidosis, persistent vomiting. Many of these patients also look dysmorphic in a recognizable way; the face often tells you the storage class before the labs come back. Reasoning is substrate-first: what is accumulating, what is failing to be made, and which compartment is responsible.