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Homocystinuria: a rare cause of megaloblastic anemia

Sunil Gomber1, Pooja Dewan, Tarun Dua

  • 1Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India. sunilgomber@hotmail.com

Indian Pediatrics
|October 12, 2004
PubMed

Insights

Homocystinuria, a metabolic disorder, can cause megaloblastic anemia in children. Prompt diagnosis and treatment with pyridoxine and folic acid can improve anemia symptoms.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Megaloblastic anemia is a common hematological disorder in children.
  • Homocystinuria is a rare inherited metabolic disorder affecting amino acid metabolism.

Observation:

  • An eight-year-old boy presented with megaloblastic anemia and later developed lens dislocation.
  • The patient exhibited a positive sodium nitroprusside test, indicating elevated urinary homocysteine levels.

Findings:

  • The child was diagnosed with homocystinuria type 1.
  • Anemia resolved with pyridoxine and folic acid supplementation.

Implications:

  • Homocystinuria should be considered in the differential diagnosis of pediatric megaloblastic anemia.
  • Early detection and management of homocystinuria can prevent severe complications like lens dislocation.

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