About sucrase-isomaltase deficiency, congenita...

What is sucrase-isomaltase deficiency, congenita...?

Disaccharide intolerance I is a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase. This enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugars (i.e., sucrose) and certain products of starch digestion (dextrins). The sucrase-isomaltase enzyme complex is normally found within the tiny, finger-like projections (microvilli or brush border) lining the small intestine. When this enzyme complex is deficient, nutrients based on ingested sucrose and starch cannot be absorbed properly from the gut.

Symptoms of this disorder become evident soon after sucrose or starches, as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant. Breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet. Symptoms are variable among affected individuals but usually include watery diarrhea, abdominal swelling (distension) and/or discomfort, among others. Intolerance to starch often disappears within the first few years of life and the symptoms of sucrose intolerance usually improve as the affected child ages. Disaccharide intolerance I is inherited as an autosomal recessive genetic trait.

What are the symptoms for sucrase-isomaltase deficiency, congenita...?

Sucrase-isomaltase deficiency, congenital, is a genetic disorder that results in a person’s disability in digesting various kinds of sugar such as maltose and sucrose.

  • Maltose is found in grains and sucrose is found in fruits, often known as table sugar. Moreover, during digestion, maltose break down into two glucose molecules, and sucrose metabolizes into glucose and fructose.
  • SI gene mutation results in sucrase-isomaltase deficiency, congenital. This gene is responsible for guiding enzymes present in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components.
  • However, it may result in the following symptoms:


These symptoms may result in the infants once they start consuming fruit juices and other food items rather than mother’s milk. The symptoms may result in.

  • Stomach cramps: since the infant’s stomach is sugar intolerant, the child will experience mild to severe cramps in the stomach.
  • Bloating: our stomach results in Bloating when we can’t digest anything properly. Bloating results in the stomach filling up with air. However, it can be painful sometimes.
  • Vomiting: the child will puke all the juices and grains one has consumed because the metabolism won’t be able to digest it.
  • Diarrhea: the child will experience loosened stools.


Conditions
Improper digestion of sugar such as maltose and sucrose,A mutation in the gene
Drugs
Sucraid
Symptoms
Stomach cramps,Diarrhea,Excess gas production,Vomiting,Bloating

What are the causes for sucrase-isomaltase deficiency, congenita...?

Sucrase-isomaltase deficiency, congenital, is a genetic disorder that results in a person’s disability to digest various kinds of sugar such as maltose and sucrose.

  • Maltose is found in grains, and sucrose is found in fruits, often known as table sugar. Moreover, during digestion, maltose breaks down into two glucose molecules, and sucrose metabolizes into glucose and fructose. The symptoms and signs are visible in the infants, such as abdominal cramps, bloating, vomiting, and diarrhea.


The cause of Sucrase-isomaltase deficiency, congenital is mentioned below:

  • This is an inherited disease resulting from an autosomal recessive pattern, i.e., the child inherited one defective gene from each parent.
  • Sucrase-isomaltase deficiency, congenital, is caused by SI gene mutation.
  • Moreover, This gene is responsible for guiding the enzyme sucrase-isomaltase present in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components.
  • This mutation prevents the enzyme from breaking down maltose and sucrose, causing intestinal discomfort seen in individuals with congenital sucrase-isomaltase deficiency.
  • These stomach-related issues can prompt the inability to put on weight and inability to flourish resulting in unhealthiness. However, many affected children can endure sucrose and maltose as they progress in years.


Conditions
Improper digestion of sugar such as maltose and sucrose,A mutation in the gene
Drugs
Sucraid
Symptoms
Stomach cramps,Diarrhea,Excess gas production,Vomiting,Bloating

What are the treatments for sucrase-isomaltase deficiency, congenita...?

Sucrase-isomaltase deficiency, is a congenital genetic disorder that results in a person’s disability in digesting various kinds of sugar such as maltose and sucrose.

In patients with Congenital Sucrase-Isomaltase Deficiency (CSID) and gastrointestinal symptoms that warrant treatment, three major treatment options exist which include, Severe diet restriction, Sucraid® (sacrosidase) Oral Solution and Sucraid with moderate diet restriction.

The following is the treatment for Sucrase-isomaltase deficiency, congenital.

  • Low sugar diet: since the SI gene is disturbed by the improper function of enzyme sucrase-isomaltase present in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. So, it is advised that a child should limit the intake of food that have fructose, maltose, sucrose, and other types of sugar. However, it is advised to appoint a dietician so the daily intake of sugar to keep blood sugar level stable.
  • Sucraid: Sucrosidases oral solution recommended for patients dealing with congenital sucrase-isomaltase deficiency. It is used to treat sucrase deficiency. It is an FDA-approved drug used for oral enzyme replacement therapy for genetically determined sucrase deficiency. Since, Sucrase-isomaltase deficiency, congenital is a genetic disorder, it isn’t properly curable but can be restricted through medications.


Conditions
Improper digestion of sugar such as maltose and sucrose,A mutation in the gene
Drugs
Sucraid
Symptoms
Stomach cramps,Diarrhea,Excess gas production,Vomiting,Bloating

Is there a cure/medications for sucrase-isomaltase deficiency, congenita...?

Sucrase-isomaltase deficiency, is a congenital genetic disorder that results in a person’s disability in digesting various kinds of sugar such as maltose and sucrose.

In patients with Congenital Sucrase-Isomaltase Deficiency (CSID) and gastrointestinal symptoms that warrant treatment, three major treatment options exist which include, Severe diet restriction, Sucraid® (sacrosidase) Oral Solution and Sucraid with moderate diet restriction.

The following is the treatment for Sucrase-isomaltase deficiency, congenital.

  • Low sugar diet: since the SI gene is disturbed by the improper function of enzyme sucrase-isomaltase present in the small intestine and is responsible for breaking down sucrose and maltose into their simple sugar components. So, it is advised that a child should limit the intake of food that have fructose, maltose, sucrose, and other types of sugar. However, it is advised to appoint a dietician so the daily intake of sugar to keep blood sugar level stable.
  • Sucraid: Sucrosidases oral solution recommended for patients dealing with congenital sucrase-isomaltase deficiency. It is used to treat sucrase deficiency. It is an FDA-approved drug used for oral enzyme replacement therapy for genetically determined sucrase deficiency. Since, Sucrase-isomaltase deficiency, congenital is a genetic disorder, it isn’t properly curable but can be restricted through medications.


Conditions
Improper digestion of sugar such as maltose and sucrose,A mutation in the gene
Drugs
Sucraid
Symptoms
Stomach cramps,Diarrhea,Excess gas production,Vomiting,Bloating

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