Nicolas was born from an uncomplicated pregnancy and delivery. Weighing 7 pounds and 12 ounces at birth, his proud parents took him home after a couple of days. He was exclusively breastfed and his bowel movements were seedy and yellow. Annie, his mom, loved the fact that he thrived, and by five months he was already up to 17 pounds. Annie loved it when David, her husband, called him “Michelin man” due to his rolls of baby fat.
At five months, Nicholas was offered cereals, followed by puréed vegetables and fruits. He loved them and could not get enough of them. Annie started noticing his stools were no longer yellow and seedy, but green and semiliquid, but she was reassured when her pediatrician told her that happens when babies start eating solids.
By six months, Nicholas stools turned into diarrhea; he was fussy, and he developed a somewhat bloated abdomen. His perianal area turned red, like a burn.
When Annie and David took him to his pediatrician, the physician said Nicolas had gotten his first virus and reassured his parents saying that babies lose the antibodies transmitted to them via the placenta right about six months. He recommended support measures and breastfeeding exclusively.
Over a period of several months, Nicholas would get better, only to develop the same symptoms again and again. Multiple stool samples tested negative for bacteria and parasites, and routine blood testing was negative.
By ten months, Nicholas had not gained any weight, and his abdomen was even more distended. He appeared to have cramps since as he was intermittently fussy, and his diaper area was badly burned.
At this point, he was referred to a pediatric gastroenterologist who ordered celiac testing, which was negative, and the testing of multiple stool samples. The only positive test was a reducing substances test, which showed a presence of sugars not absorbed in the stool. This test is usually positive in patients who do not absorb carbohydrates well.
Annie had noticed Nicholas’ diarrhea was particularly worse after eating fruit.
An upper endoscopy, a procedure in which a tube with a camera is inserted through the mouth to examine the stomach and intestines while the patient is asleep, was done. The upper endoscopy showed normal findings, and the biopsies were also normal; but measurement of the activity of sugar enzymes in the intestinal cells was very low for sucrase and maltase.
These enzymes are called disaccharides since they split two sugar molecules – sucrose and maltose -that are bound together: glucose and fructose in the case of sucrose, and two glucose molecules in the case of maltose.
Sucrose is present in many foods, but just to name a few:
- Fruits such as bananas, apples, mangos, and peaches
- Vegetables such as beets, carrots, corn, sweet potato, split peas, and beans
- Other foods such as cereals, yogurt, honey, maple syrup, chocolate, and candy
Maltose is present in starches, such as baby cereals.
In Nicholas’ case, his disaccharidases’ activity levels were very low for sucrase and maltase. As a result, he could not absorb those two sugar molecules.
These disaccharides kept going down his 18 feet of bowel, pulling water from the lining cells of the small intestine (giving him diarrhea) and eventually reaching the lower intestines. There, the high load of bacteria would ferment the sugars and produce hydrogen causing his bloating, and acid residues that would burn his diaper area.
Voila! Everything made sense!
The pediatric gastroenterologist recommended a nutritional consult to learn which foods had the highest amount sucrose and maltose and started him on pharmaceutical therapy.
Nicholas is now 4-years-old, and his symptoms are being managed. His parents remain diligent about avoiding foods that can trigger his symptoms. Nicholas’ parents are happy to finally understand his condition and never miss an opportunity to spread the word about the symptoms of Congenital Sucrase-Isomaltase Deficiency (CSID) in infants to all his family and friends.