The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Decreased plasma carnitine||-|
|Elevated hepatic transaminases||-|
|Medium chain dicarboxylic aciduria||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I am wondering if there is any information about children suffering from MCADD experiencing white stools for any reason related to the metabolic disorder. Is this a sign that my daughter is getting fat build-up on her heart, brain, or liver? Please let me know what you think. See answer
My daughter was diagnosed with medium-chain acyl-coenzyme A dehydrogenase deficiency at 2 weeks. She is now 10 weeks old and seems to eat a lot. She's having breast and bottle milk but can drink 80z of hungry baby formula. Is it normal for her to be hungry all the time? Also, what happens to the fats as she can't break them down further? See answer
I have two sons with MCAD deficiency. I was recently told by the doctor that my sons will not be able to consume any alcohol when old enough to do so because it could lead to death. I would really like more information on this. See answer
My sister's daughter (my niece) recently had a baby and he was diagnosed with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. If this condition is traced back to my sister, is it important for me and/or my children (ages 8 and 11) to be tested? See answer
My daughter had newborn screening performed at the hospital after her birth. Her doctor recently called to tell us that her test came back abnormal for medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. Are there factors that may contribute to a falsely positive result? See answer