I have a 15month old daughter with MCADD. She has been hospitalized several times over the last 6 months due to illness and trying to seek a secondary diagnosis. During episodes of illness and low sugar her ketones get high instead of low as MCADD should. We did the exome sequencing testing and we didn’t get any other answers from that. Have you heard of this before? Any advice on next steps? We just recently applied on http://www.undiagnoseddiseasesnetwork.com.
Thank you for your time,
I can’t really answer specific questions about your child since I don’t have complete clinical and laboratory information. In general, keep in mind that MCAD deficient patients can make some ketones, though it’s true that they are usually lower than other children. It sounds like your physicians are taking a thoughtful approach looking for other possibilities, an important point since having MCAD deficiency doesn’t preclude having something else in addition. Metabolomic analysis while ill is another option, similar to exam but looking at metabolites in blood instead of DNA sequence, as it non-specifically examines a few hundred compounds. The undiagnosed disease program is a good option. Hope this helps. Dr. Vockley