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Carbohydrate Dystrophies

*Dystrophiae parenchymatosae carbohydraticae*

For medical students2 min readUpdated 2026-10-10

Carbohydrate dystrophies are structural manifestations of various carbohydrate metabolism disorders in tissues. The pathology is accompanied by changes in the quantity, physicochemical properties, or localization of glycogen, glycosaminoglycans, and glycoproteins. Morphological diagnosis of these processes is based on the use of histochemical staining techniques.

PAS reactionColors polysaccharides and glycoproteins red
GlycogenosesInherited enzymopathies with glycogen accumulation
Diabetes mellitusGlycogen deposition in the epithelium of the loop of Henle and hepatocytes
Mucous dystrophyAccumulation of mucins leading to duct obstruction and cysts

Classification of Tissue Carbohydrates

In histochemical practice, three key groups of carbohydrate compounds are distinguished:

Methods of Morphological Identification

Special stains on histological sections are used for precise carbohydrate detection:

  1. PAS reaction (Periodic acid–Schiff reaction). Initial compounds are oxidized by periodic acid or potassium periodate to aldehydes, which yield a persistent red color upon contact with Schiff's reagent.
  2. Glycogen differentiation. The PAS reaction is combined with enzymatic control (preliminary amylase treatment) or performed using Best's carmine, which stains glycogen red.
  3. Detection of mucins and glycosaminoglycans. Toluidine blue or methylene blue is used. The presence of chromotropic substances is judged by the phenomenon of metachromasia (a shift in the original dye color).

Glycogen Metabolism Pathology and Glycogenoses

Normally, labile glycogen (liver, skeletal muscle) is mobilized upon metabolic demand, whereas stable glycogen (nerve cells, cardiac conduction system, endothelium, aorta, cartilage) remains a constant component. Regulation is carried out by the hypothalamic-pituitary system, pancreas, thyroid, and adrenal glands.

Disturbances in glucose metabolism lead to intracellular accumulation of glycogen:

Type of glycogenosisDisease nameGlycogen structure
Type Ivon Gierke diseaseUnaltered
Type IIPompe diseaseUnaltered
Type IIICori diseaseMarkedly altered
Type IVAndersen diseaseMarkedly altered
Type VMcArdle diseaseUnaltered
Type VIHers diseaseUnaltered

Glycoprotein Metabolism Disorders (Mucous and Colloid Dystrophy)

Mucous dystrophy is characterized by the accumulation of mucins and mucoids within cells or the stroma. The process is accompanied by mucus hypersecretion, altered viscosity, epithelial death and desquamation, gland obstruction with cyst formation, and secondary inflammation. The primary cause is catarrhal inflammation of mucous membranes, as well as systemic hereditary diseases (cystic fibrosis). A clinical example is bronchial obstruction by mucus leading to atelectasis and pneumonia.

In colloid dystrophy, glandular tissue accumulates pseudomucins—mucus-like substances that thicken and acquire a colloid-like appearance (typical for colloid goiter).

Mnemonic

PAS gives a BRIGHT RED shine — for glycogen, it's truly divine! (The PAS reaction and Best's carmine stain glycogen bright red).

Frequently asked questions

Deficiency of which specific enzymes causes type I, II, and III glycogenoses?

Type I, II, and III glycogenoses develop due to inherited deficiencies of specific enzymes involved in glycogen metabolism.

  • Type I glycogenosis (von Gierke disease) is caused by a deficiency of glucose-6-phosphatase (subtype Ia) or glucose-6-phosphate translocase (subtype Ib).
  • Type II glycogenosis (Pompe disease) results from a defect in $\alpha$-1,4-glucosidase (acid maltase), leading to excess lysosomal glycogen accumulation.
  • Type III glycogenosis (Cori disease) is caused by amylo-1,6-glucosidase (debranching enzyme) deficiency.
What is the difference between labile and stable glycogen?

Labile glycogen is stored in the liver and skeletal muscles and is readily consumed to meet energy demands. Stable glycogen is part of the cardiac conduction system, nervous tissue, and cartilage, maintaining a constant baseline level.

In which parts of the kidney does glycogen deposit in diabetes mellitus?

Due to pronounced glucosuria, intracellular glycogen deposits are found in the epithelium of the loop of Henle (thin segment and distal tubules).

What is the phenomenon of metachromasia?

It is the ability of chromotropic substances (glycosaminoglycans and mucins) to alter the original color of a dye (such as toluidine blue or methylene blue) during histochemical examination.

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