This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
|Increased circulating free fatty acid level||0030781|
|5%-29% of people have these symptoms|
|Elevated hepatic transaminase||
High liver enzymes
|Elevated serum creatine kinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
Poor feeding[ more ]
Abnormally low body temperature
Yellowing of the skin[ more ]
|Patent foramen ovale||0001655|
Difficulty breathing[ more ]
|Small for gestational age||
Birth weight less than 10th percentile
Low birth weight[ more ]
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|1%-4% of people have these symptoms|
|Anteriorly placed anus||0001545|
Interruption of electrical communication between upper and lower chambers of heart
Stretched and thinned heart muscle
|Enlarged cisterna magna||0002280|
High blood ammonia levels
Low blood calcium levels
Decreased protein levels in blood
Decreased muscle tone in infant
|Inflammatory abnormality of the skin||
Increased size of skull
Large head circumference[ more ]
Having too much body fat
Fluid around heart
|Prolonged QT interval||0001657|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other long chain fat oxidation defects. Myopathic carnitine palmitoyl transferase II deficiency (see this term) has a presentation identical to the myopathic presentation of VLCADD.
Visit the Orphanet disease page for more information.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Rare Disease Day at NIH 2021
March 1, 2021
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My husband and I were recently told we are carriers, and our first baby girl died at about 40 hrs old from VLCAD. I am now pregnant with another little girl and we worry about this baby having VLCAD. What are the chances that she comes out and has the condition and dies? And if she does have it, is there any treatment I can do before she's born? Can she survive having the mutated gene and live a healthy life? See answer
What is the life expectancy of a child with VLCAD deficiency? Who are the best doctors in the United States for this condition? I was told that my child has one mutated gene and one with significant variables. Does that mean she has the condition?