Neuropathic symptoms may be at least partially reversible in patients with long chain fatty acid oxidation disorders (LCFAOD), according to new research.

Sarah Grunert, MD. Credit: International Network for Fatty Acid Oxidation Research and Management (INFORM)

Speaking at the International Network for Fatty Acid Oxidation Research and Management (INFORM) Virtual Meeting held October 27-28, 2021, Sarah Grunert, MD, stated that neuropathic symptoms in patients with long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD) may be reversible in patients with acute metabolic deterioration and acute onset of neuropathy.

Dr. Grunert, from the Metabolic Center of the University Children’s Hospital in Freiburg, Germany, presented findings from her retrospective study involving 8 LCHAD-deficient and 11 MTPD patients. 

Continue Reading

The prevalence of neuropathy in all patients older than 2.5 years was found to be 64%, according to her research. Neuropathy tended to be slightly more common in MTPD patients (70%), compared to LCHADD patients (50%). Dr. Grunert noted that “interestingly, all MTPD patients over 5.5 years of age showed signs of neuropathy, clinically or electrophysiologically.” 

Furthermore, she said, “4 patients showed an acute onset or aggravation of neuropathic signs or symptoms following a specific trigger. In all 4 of them, neuropathic symptoms were at least partly reversible.”

Read more about LCFAOD complications

In her study, Dr. Grunert referenced a 25-year-old man with LCHADD who experienced 2 separate infection-associated episodes of acute deterioration of his known peripheral neuropathy. The patient had his first episode after he developed a fever and flu-like symptoms at the age of 22 years. He developed paraparesis and had to use a wheelchair for approximately 1 month before he spontaneously recovered within a few months.

Dr. Grunert also discussed a young girl with LCHADD who developed significant gait deterioration over a period of 6 months following viral myocarditis with cardiomyopathy. The patient developed paraplegia after an episode of cardiac failure with resuscitation. Encouragingly, according to Dr. Grunert, “after recovery, her neurologic problems almost fully resolved and at the age of 8 years she can walk independently and is only minimally impaired in her physical activity.”

Peripheral neuropathy, according to Dr. Grunert, is a common complication of both LCHADD and MTPD and can be disabling, progressing to loss of motor skills. Dr. Grunert emphasized the need for early and adequate support due to the severe psychosocial burden on patients and families.

She also stated that more studies are needed to further define the underlying pathophysiology and to identify new targets for therapeutics. 

To date, neuropathic symptoms have largely been considered irreversible in patients with MTPD and LCHADD, according to Dr. Grunert. 


Spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein deficiency. Presented at: International Network for Fatty Acid Oxidation Research and Management (INFORM) Virtual Meeting: October 28, 2021; Virtual.