Congenital Sucrase Isomaltase Deficiency synonyms

Congenital Sucrase-Isomaltase Deficiency (CSID) is primarily known by its official clinical name, but you may also encounter it as Sucrase-Isomaltase Deficiency or Sucrose Intolerance. This rare genetic disorder is categorized in medical literature under several designations that reflect its nature as an enzyme deficiency affecting the digestion of specific sugars.

What are the common synonyms and historical names for CSID?

In medical literature, Congenital Sucrase-Isomaltase Deficiency is often referred to by its abbreviation, CSID. Because the condition involves the inability to break down sucrose and maltose, it is frequently labeled as Sucrose Intolerance or Disaccharide Intolerance. Older clinical texts may occasionally refer to it as congenital sucrose intolerance or sucrase-isomaltase deficiency, though these terms are less precise than the modern nomenclature. Understanding these variations is essential for patients, as 140 members of the DiseaseMaps.org community have identified their condition using these various clinical terms.

How is the condition classified in medical systems?

Medical professionals and researchers use standardized codes to ensure consistent diagnosis and reporting of Congenital Sucrase-Isomaltase Deficiency. These systems help streamline global communication regarding the disease:

• OMIM (Online Mendelian Inheritance in Man): #222900


• Orphanet: ORPHA834


• ICD-10-CM: E74.39 (Other disorders of carbohydrate absorption)

Why does Congenital Sucrase-Isomaltase Deficiency have multiple names?

The variety of names for Congenital Sucrase-Isomaltase Deficiency stems from the evolution of clinical understanding. Originally, the condition was described simply by its clinical effect—the inability to tolerate sucrose. As genetic and biochemical understanding advanced, the specific enzyme complex involved (sucrase-isomaltase) was identified, leading to the more accurate, modern name Congenital Sucrase-Isomaltase Deficiency. Today, Congenital Sucrase-Isomaltase Deficiency is the preferred term in clinical settings, as it accurately identifies the underlying enzyme defect rather than just the resulting symptoms.

Next steps

• Consult a gastroenterologist or a metabolic specialist to confirm your diagnosis using the correct terminology.


• Join the 140-member strong community on DiseaseMaps.org to share experiences with others living with Congenital Sucrase-Isomaltase Deficiency.


• Request genetic counseling to understand the inheritance patterns of this autosomal recessive condition.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• Orphanet: Sucrase-isomaltase deficiency (ORPHA834)


• NIH Genetic and Rare Diseases Information Center (GARD): Congenital sucrase-isomaltase deficiency


• OMIM (Online Mendelian Inheritance in Man): #222900, Sucrase-isomaltase deficiency


• DiseaseMaps.org: Patient community data for Congenital Sucrase-Isomaltase Deficiency