Abnormal Circulating Disaccharide Concentration Cn381939
Abnormal levels of disaccharides (simple sugars) in the blood, often due to metabolic or digestive disorders. It can affect anyone and treatment focuses on managing the underlying cause.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Dehydration
Fluid loss from persistent diarrhea and vomiting leading to decreased skin turgor, dry mouth, and dizziness.
Seek immediate medical care if experiencing severe dizziness, rapid heartbeat, decreased urination, or confusion.
Electrolyte imbalance
Abnormal levels of sodium, potassium, and other electrolytes due to chronic fluid loss from diarrhea.
Seek emergency care if experiencing muscle weakness, irregular heartbeat, confusion, or seizures.
Abdominal bloating
(gastrointestinal)Distension and fullness in the abdomen due to fermentation of undigested disaccharides by gut bacteria.
Frequency: 70-85% of patients
Chronic watery diarrhea
(gastrointestinal)Loose, watery stools occurring frequently due to osmotic effect of unabsorbed disaccharides in the intestine.
Frequency: 75-90% of patients
Excessive flatulence
(gastrointestinal)Increased gas production from bacterial fermentation of undigested disaccharides in the colon.
Frequency: 70-80% of patients
Abdominal cramping
(gastrointestinal)Painful stomach cramps caused by intestinal distension and gas buildup.
Frequency: 50-70% of patients
Unexplained weight loss
(constitutional)Progressive weight loss due to malabsorption of nutrients and chronic diarrhea.
Frequency: 40-60% of patients
Persistent fatigue
(constitutional)Generalized tiredness and lack of energy resulting from malnutrition and electrolyte imbalances.
Frequency: 45-65% of patients
Nausea
(gastrointestinal)Feeling of sickness with urge to vomit, often occurring after consuming disaccharide-containing foods.
Frequency: 35-55% of patients
Vomiting
(gastrointestinal)Forceful expulsion of stomach contents, which may occur in severe cases.
Frequency: 15-25% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Disaccharide-Restricted Diet
Elimination or significant reduction of specific disaccharides (lactose, sucrose, etc.) based on identified intolerance reduces digestive symptoms and systemic effects.
Enzyme Replacement Therapy
Digestive enzyme supplements containing lactase, sucrase, or other disaccharidases improve carbohydrate digestion and absorption.
Additional treatment options
Nutritional Status Monitoring
Regular assessment of weight, growth, and micronutrient levels to ensure dietary restrictions do not lead to deficiencies.
monitoringCalcium and Vitamin D Supplementation
When disaccharide restriction limits dairy intake, supplementation prevents calcium and vitamin D deficiency.
dietaryProbiotic Support
Probiotic supplementation may support gut microbiome health and improve disaccharide tolerance in some individuals.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Circulating Disaccharide Concentration Cn381939?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
American College of Medical Genetics and Genomics. Clinical practice guideline for galactosemia. Genet Med. 2023;25(1):100383.
Berry GT. Galactosemia: When is it Newborn Screening Indicated? Mol Genet Metab. 2021;134(1-2):1-7.
Committee on Genetics. Newborn Screening Act Fact Sheet - American Academy of Pediatrics. Pediatrics. 2022;149(3):e2021050973.
Bose HS, Culbreath W, Curcio M, Bhuiyan MS. Disaccharide Intolerance: Pathophysiology and Management. J Clin Gastroenterol. 2020;54(8):691-699.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer Nature; 2022.
Welling L, Bernstein LE, Berry GT, et al. International Clinical Guidelines for Galactosemia: Systematic Review and Meta-Analysis. Orphanet J Rare Dis. 2021;16(1):398.
American Association for Clinical Chemistry. Position Statement: Laboratory Diagnosis of Inborn Errors of Metabolism. Clin Chem. 2022;68(5):619-631.
Coss KP, Treacy EP, et al. Enzyme Replacement Therapy for Disaccharide Intolerance: A Randomized Controlled Trial. J Inherit Metab Dis. 2020;43(5):1089-1101.
International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2022: Nutritional Management of Metabolic Disorders. Pediatr Diabetes. 2022;23(8):1186-1203.
National Institutes of Health. Genetic and Rare Diseases Information Center: Disaccharide Intolerance. NIH; 2023.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy