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Sucrase-isomaltase deficiency: changing pattern over two decades

J J Baudon¹, F Veinberg, E Thioulouse

¹Centre de Pediatrie Edmond-Lesne, Hôpital Trousseau, Paris, France.

Journal of Pediatric Gastroenterology and Nutrition

|April 1, 1996

Summary

Sucrase-isomaltase deficiency (SID) symptoms in infants are influenced by dietary sucrose introduction timing. Diagnosis relies on disaccharidase determination due to unreliable sucrose load and hydrogen breath tests.

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Area of Science:

Pediatrics
Gastroenterology
Human Genetics

Background:

Sucrase-isomaltase deficiency (SID) is a genetic disorder affecting carbohydrate digestion.
Infant feeding practices, particularly sucrose introduction, can influence SID symptomatology.
Delayed diagnosis is common due to variable and non-specific symptoms.

Purpose of the Study:

To analyze the clinical presentation and diagnostic challenges of sucrase-isomaltase deficiency.
To investigate the impact of altered infant feeding practices on SID symptoms over two decades.
To evaluate the reliability of diagnostic tests for SID.

Main Methods:

Retrospective case series analysis of 22 patients with SID over 20 years.
Review of patient records, including symptom onset, feeding history, and diagnostic test results.

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Comparison of diagnostic test accuracy: sucrose load test and hydrogen breath test versus disaccharidase determination.

Main Results:

Symptom onset, including diarrhea and dehydration, was often delayed weeks to months after sucrose introduction.
Hypotrophy was present in only half the cases, contributing to diagnostic delays.
Disaccharidase determination was the definitive diagnostic method, as sucrose load and hydrogen breath tests showed limitations.

Conclusions:

Infant feeding practices significantly modulate the clinical expression of sucrase-isomaltase deficiency.
Disaccharidase enzyme assays are crucial for accurate SID diagnosis.
Early recognition and diagnosis of SID remain challenging due to variable clinical presentations.