DWQA QuestionsCategory: QuestionsDiagnosing MADD/GA2
Sarah West asked 4 years ago
What Acylcarnitine profile labs would be off with this disorder? Would you see these same labs be abnormal with the carrier of someone with MCADD (yes, I did mean MCADD carrier and not a MADD/GA2 carrier)
Thank you. Looking for answers

1 Answers
INFORM Physician answered 4 years ago
Ms. West, The diagnostic profile for MADD/GA2 would differ significantly form MCADD. And MCADD carriers typically have normal acylcarnitine profiles. There are other reasons for having an MADD-like profile, mostly related to other inborn errors of energy metabolism with secondary effects on mitochondrial function. You should take up this discussion with the metabolic doc who ordered the test (or see one if it was ordered by anyone else). Hope this helps. Dr. Vockley