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D55.3 – Anaemia due to Nucleotide Metabolism Disorder

D55.3 is an ICD-10 code for a rare, inherited haemolytic anaemia caused by enzyme defects in the nucleotide metabolism of red blood cells.

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Things worth knowing about "D55.3"

D55.3 is an ICD-10 code for a rare, inherited haemolytic anaemia caused by enzyme defects in the nucleotide metabolism of red blood cells.

What is D55.3?

The ICD-10 code D55.3 refers to anaemia due to disorders of nucleotide metabolism. This is a rare, usually congenital haemolytic anaemia in which red blood cells (erythrocytes) are prematurely destroyed due to a defect in specific enzymes involved in nucleotide metabolism. This leads to a shortage of functional red blood cells and reduced oxygen delivery to the body's tissues.

Causes

Anaemia classified under D55.3 is caused by genetically determined enzyme defects in the nucleotide metabolism of erythrocytes. Nucleotides are essential building blocks of DNA and RNA and serve as key energy carriers (e.g., ATP). Relevant enzyme defects include:

Pyrimidine 5-nucleotidase deficiency (P5N deficiency): The most common example in this group. The enzyme pyrimidine 5-nucleotidase is responsible for breaking down pyrimidine nucleotides within red blood cells. A deficiency leads to the accumulation of toxic pyrimidine nucleotides, causing premature destruction of erythrocytes (haemolysis).
Adenosine deaminase overactivity: Excessive activity of this enzyme can result in adenine depletion and subsequent haemolysis.

Most of these defects are inherited in an autosomal recessive pattern, meaning both parents must carry the defective gene for a child to be affected.

Symptoms

Clinical manifestations are typical of a haemolytic anaemia and can vary in severity:

Pallor of the skin and mucous membranes
Fatigue and general weakness
Jaundice (icterus) due to elevated bilirubin levels resulting from red blood cell breakdown
Enlarged spleen (splenomegaly)
Episodes of increased haemolysis, often triggered by infections or oxidative stress
In severe cases: gallstones caused by excess bilirubin production

Diagnosis

Diagnosing anaemia due to nucleotide metabolism disorders requires specialised testing, as routine blood tests often do not directly detect this rare condition:

Complete blood count (CBC): Reveals anaemia with low haemoglobin and elevated reticulocyte count, indicating compensatory increased red blood cell production
Blood smear: In pyrimidine 5-nucleotidase deficiency, characteristic basophilic stippling of erythrocytes is typically visible
Enzyme activity assay: Specific measurement of reduced enzyme activity in erythrocyte lysate
Molecular genetic testing: Confirmation by identifying the causative gene mutation
Lactate dehydrogenase (LDH) and bilirubin levels: Elevated values indicating haemolysis

Treatment

There is currently no specific curative therapy available. Treatment is supportive and based on disease severity:

Blood transfusions: For severe anaemia during critical episodes
Folic acid supplementation: To support increased red blood cell production
Splenectomy (surgical removal of the spleen): In selected cases, this can reduce the degree of haemolysis
Avoidance of triggers: Certain medications and sources of oxidative stress can exacerbate haemolytic episodes and should be avoided
Regular haematological monitoring to track disease progression

Clinical Classification

D55.3 belongs to the ICD-10 group D55 – Anaemia due to enzyme disorders and is listed as a distinct entity within this group. Unlike D55.0 (G6PD deficiency) and D55.2 (other disorders of glycolytic enzymes), D55.3 specifically affects nucleotide metabolism. It is an exceptionally rare condition, often diagnosed in childhood or later in life.

References

World Health Organization (WHO): ICD-10 International Statistical Classification of Diseases and Related Health Problems, 10th Revision, Volume 1 – D55.3, Geneva.
Beutler E. & Prchal J.T. in: Williams Hematology, 9th Edition, McGraw-Hill Education, 2016 – Chapter on Erythrocyte Enzyme Defects.
Iolascon A. et al.: Diagnosis and management of congenital hemolytic anemias, American Journal of Hematology, 2020; 95(3): 327–340.

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