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Malabsorption Syndrome

  1. Malabsorptive disorder (syndrome) are conditions that cause insufficient assimilation of ingested nutrients as a result of either maldigestion or malabsorption.
  2. There can be either a generalized defect in assimilation of nutrient or a specific congenital disorder affecting individual intestine digestive enzyme or transport system. 

Classification of malabsorption syndromes


Generalized Malabsorptive States in childhood


More Common

Less Common

Exocrine pancreas

Cystic fibrosis Chronic Protein – calorie malnutrition

Shwachman- Diamond syndrome

Chronic pancreatitis

Liver, biliary tree

Biliary atresia

Other cholestatic states (including

Alagille syndrome, familial neonatal



Anatomic defects

Massive resection

Stagnant loop syndrome

Congenitally short gut

Chronic infection


Immune deficiency


Celiac disease

Dietary protein intolerance (milk, Soy)

Tropical sprue Idiopathic diffuse mucosal lesions


Clinical Feature;

  1. The patient presents with diarrhea, abdominal distension, pain abdomen, flatus, steatorrhoea.
  2. There is failure to gain weight and child may be stunted in chronic malnutrition.
  3. There are signs of vitamin and mineral deficiency and other signs of protein energy malnutrition

Congenital disorders are present since birth where as celiac disease presents at the time of weaning.


  1. Specific Defects of Digestive – Absorptive Function in Children
Variable Disease
Fat Abetalipoproteinemia Lymphangiectasia
Protein Enterokinase deficiency
Amino acid transport defects (cystinuria, Hartnup disease, methionine malabsorption, blue diaper syndrome
Carbohydrate Disaccharidase deficiencies (congenital: sucrase isomaltase, 
lactase; developmental: lactase, acquired)
Glucose-galactose malabsorption (starch malabsorption)
Ions, trace elements Chloride-losing diarrhea
Congenital sodium diarrhoea
Acrodermatitis enteropathica (zinc)
Menkes syndrome (copper)
Vitamin D-dependent rickets
Primary hypomagnesemia
Drug – induced Sulfasalazine (folic acid malabsorption) Cholestyramine (calcium,  fat malabsorption) Phenytoin (calcium malabsorption
Pancreatic Specific enzyme deficiency

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