What is maltose deficiency?
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person’s ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains).
What are the symptoms of congenital sucrase-isomaltase deficiency?
Chronic, watery diarrhea and failure to thrive are the most common symptoms in infants and toddlers. Other symptoms include abdominal distention (swelling), gassiness, colic, irritability, scratched and reddened buttocks, severe diaper rash due to acidic diarrhea, indigestion (dyspepsia), and vomiting.
What causes congenital Sucrase-Isomaltase deficiency?
Mutations in a gene (the SI gene) cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is involved in the digestion of sugar and starch.
What are the symptoms of CSID?
Chronic symptoms of CSID may include:
- acidic, watery diarrhea.
- abdominal pain, cramps.
- abdominal distension.
- flatulence.
- excoriated buttocks, diaper rash.
- nausea and vomiting.
- dyspepsia.
- failure to thrive.
Is CSID a disease?
Congenital Sucrase-Isomaltase Deficiency (CSID) is considered a rare disease. Because its symptoms overlap with more common gastrointestinal disorders, it is often difficult to diagnose.
Is CSID a disability?
The SSA considers CSID a disabling condition if it meets at least one of the following conditions: You cannot do work that you did before, The Social Security Administration decides that you cannot adjust to other work because of your medical condition(s), and.
How is CSID treated?
Treatment of CSID focuses on dietary management through a low-sucrose or sucrose-free diet. In addition, a low-starch or starch-free diet is advised in some cases, especially in the first few years of life.
Can you develop CSID later in life?
The word congenital means present at birth, and most congenital disorders are diagnosed when one is an infant or in early childhood. However, many patients with Sucrose Intolerance due to CSID are being diagnosed later in life, when they are in their teens or even when they are adults.
What happens if CSID goes untreated?
Left untreated, the disease can lead to accelerated motility and broad malabsorption of all nutrients (not just carbohydrates) resulting in weight loss, low body mass index, dehydration, metabolic acidosis, hypercalcemia, failure to thrive, and developmental delay.