A diagnostic odyssey | How does a patient receive a diagnosis of a peroxisomal disorder?

February 5, 2020

A patient with either type of peroxisomal disorder (peroxisomal biogenesis disorder or single enzyme protein deficiency disorders) can be diagnosed through several biochemical tests or by sequencing the patient’s DNA to identify which mutations a patient has.


While peroxisomal disorders affect each patient differently, common health issues include: hearing and vision loss, hypotonia, neurological issues, seizures, developmental delay, feeding issues, adrenal insufficiency, leukodystrophy, and liver, kidney, and bone disease.

In the past, there was limited early detection of peroxisomal disorders.


Now, there are two ways that individuals are being diagnosed with peroxisomal disorders. The first is what we’ll call the, “Turn over every stone” approach, and the second method is through comprehensive newborn screening shortly after birth.


The Turn over every stone” approach is similar to looking for a needle in a haystack. When a baby is born with some of the hallmark symptoms of peroxisomal disorders, (low muscle tone, seizures, apnea, hearing and vision difficulties, an inability to eat, or craniofacial differences such as a high forehead, broad nasal bridge, low set ears, epicanthal folds, a large open fontanel) this can kick off a series of tests run at the hospital or sometimes run after a baby is discharged from the hospital by a pediatrician or geneticist.

Many rare or congenital diseases have similar symptoms, and so usually a physician tests for a variety of rare diseases. This testing and turning over every stone can be an arduous and lengthy journey and can leave families feeling powerless and weary. While a physician is “turning over every stone” families may have to endure extensive blood tests, imaging tests, and a slew of confusing paperwork. With the “Turn over every stone approach” physicians may eventually run tests to look at the levels of very long chain fatty acids. Elevated levels of very long chain fatty acids would help provide a biochemical diagnosis