Refsum disease with increased pipecolic acidemia: A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders. More detailed information about the symptoms, causes, and treatments of Refsum disease with increased pipecolic acidemia is available below.
See full list of 23 symptoms of Refsum disease with increased pipecolic acidemia
Home medical testing related to Refsum disease with increased pipecolic acidemia:
Review possible medical complications related to Refsum disease with increased pipecolic acidemia:
Read more about causes of Refsum disease with increased pipecolic acidemia.
Commonly undiagnosed diseases in related medical categories:
Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often fails to be correctly diagnosed. Women with the condition tend...read more »
Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he...read more »
Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's disease, it can...read more »
Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder...read more »
MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for which...read more »
Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be...read more »
Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed...read more »
Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children....read more »
Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as ...read more »
Read more about Misdiagnosis and Refsum disease with increased pipecolic acidemia
Research related physicians and medical specialists:
Other doctor, physician and specialist research services:
Rare types of diseases and disorders in related medical categories:
More Refsum disease with increased pipecolic acidemia animations & videos
Prognosis for Refsum disease with increased pipecolic acidemia: death usually occurs after a few years but timely treatment can be very helpful
More about prognosis of Refsum disease with increased pipecolic acidemia
Types of Refsum disease with increased pipecolic acidemia
Read about other experiences, ask a question about Refsum disease with increased pipecolic acidemia, or answer someone else's question, on our message boards:
Tools & Services:
Medical Articles:
Search Specialists by State and City
By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.
Copyright © 2011 Health Grades Inc. All rights reserved. Last Update: 7 May, 2013 (2:05)
