GALC and metabolic disease: Invitae Metabolic Panel: non-contributory with incidental findings> FECH Low penetrance Pathogenic Mutation associated with AR erythropoietic protoporphyria> GALC Benign MutationQuest Urine Organic Acid: Patterns of elevated organic acid does not suggest a specific inherited metabolic disorder aconitic acid 79 (ref 13-72), adipic acid 10 (ref 0-9), 2-OH-glutaric: 24 (ref 1-14)