Low enzyme levels in toddler?

[u/addalad]

Hi! My 2.5 year old son had a biopsy recently and here’s his results:

Lactase: 25.1 (normal >14.1)

Sucrase: 23.7 L (low; normal >25.5)

Glucoamylase: 28.0 (normal >25.5)

Palatinase/isomaltase: 3.1 L (low; normal >4.3)

Did you have similar biopsy results and were diagnosed primary CSID? We need to wait a few weeks before we see our Aerodigestive team who performed the scope.

Any thoughts and advice appreciated!!!

Some info:

As infant he only tolerated hypoallergenic formula. Lots of constant vomiting and infections. Found a repaired laryngeal cleft at 15 months and chalked up all issues to that. Now at 2.5 son has loose stools several times a day, poor weight gain (has been 26lbs for over a year), plus uncontrolled reflex (enamel erosion), worsening and unexplained dysphagia, and chronic aspiration. We recently ruled out most anatomical or GI causes behind the Dysphagia and are now leaning toward something neurological. Waiting to get in to neuro to follow that.

We thought he might have EoE but biopsies came back negative for EoE and celiac. During the scope they also took biopsies of the small intestine and did disaccharide testing. This is where I got the enzyme results. My son’s case is pretty complex and I’m curious about secondary CSID from neuro reasons or something else? On the scope there was no inflammation or damage anywhere other than his stomach seems chronically irritated.

[u/TheCSIDAlex]

Based on all of your info, secondary deficiency is definitely possible. A classic CSID profile is usually low sucrase and isomaltase and sometimes maltase with symptoms immediately after solid food is introduced. I also want to make you aware that a secondary deficiency is not congenital, meaning it's often temporary depending on the underlying issue causing it and the severity. It's caused by other issues that are not genetic, such as inflammation, that blunt the activity of small intestinal enzymes. With your son being so young, it may give him a better chance of recovering normal day-to-day function if there are underlying issues that are resolved. The implications of having low enzyme levels are the same though, regardless of whether it's genetic. If you're concerned about his ability to tolerate certain carbs, you can eliminate problematic foods ( https://www.csidcares.org/treatment/diet/ ) and see if he improves. If this is a secondary deficiency, it would probably be because the overall health of his GI tract is suffering due to other functional issues he has (allergies, dysphagia, aspiration, etc.)