Fumaric aciduria (FA)

Overview: Fumarase deficiency (also known as Fumaric aciduria or FA) is extremely rare, with only thirteen diagnosed and identified cases worldwide until roughly 1990. (FA is an exceptionally rare condition characterized by a deficiency of the enzyme fumarate hydratase, leading to vast elevations of fumaric acid in the urine. Fumaric acid, or fumarate, is a metabolite in a cellular energy production pathway known as the Citric Acid Cycle or Kreb’s Cycle. In individuals with FA fumarate hydratase is deficient, disallowing fumarate to be converted into malate, the next step of the Kreb’s Cycle. Thus the pathophysiology of FA is intimately linked to cellular energy metabolism.

Characteristics/Symptoms: Fumarase deficiency causes encephalopathy, severe mental retardation, unusual facial features, brain malformation, and epileptic seizures due to an abnormally low amount of fumarase in cells. It can initially present with polyhydraminos on prenatal ultrasound. Affected neonates may demonstrate nonspecific signs of poor feeding and hypotonia. Laboratory findings in neonates may indicate polycythemia, leukopenia, or neutropenia. As they age, neurological deficits begin to manifest with seizures, dystonias, and severe developmental delay.

The list of signs and symptoms mentioned in various sources for Fumaric aciduria includes the 10 most common listed below:

• Increased level of fumaric acid in urine
• Increased level of fumaric acid in blood
• Reduced muscle tone
• Psychomotor retardation
• Seizures
• Breathing problems
• Increased lactic acid levels in blood
• Increased ammonia levels in blood
• Brain malformations
• Unusual facial features 

Tests/Diagnosis: blood and urine laboratory chemistries, bladder, kidney and urinary imaging and laboratory values, and MRI

Treatment Options: Currently no known treatments other than management of symptoms, seizure control, various gross and fine motor therapies, possible pharmocological options for management of aciduria or lactic acid imbalances.  If mitochondrial in origin, mitochondrial protocols should be closely followed for emergency situations.

Support/Information: http://www.experienceproject.com/groups/Have-Fumaric-Aciduria/95269



Luc's Story: Right now hes not having any its truly a blessing he is a bright happy, healthy , baby hes a little behind with milestones but over all not doing to bad he has bad refux and digestion problems with is still a struggle but under control !!  He has seizures but nothing that is not controllable with what he's been hit with.  Overall is he doing well, but he is only 8 months old.  I hope he grows up to be a normal, healthy, happy baby child. We currently do not have any treatment options other than some homeopathic remedies such as organics, fish oil, homemade milk, osteopathy and massage, and many therapies.  Support is difficult to find, though some online support is available. I struggle with not knowing much about what we are facing or what we should be doing.