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Lipoprotein lipase deficiency.

K N Shankar1, H S Bava, J Shetty

  • 1Department of Paediatrics, Seth G.S. Medical College, Parel, Mumbai.

Journal of Postgraduate Medicine
|July 1, 1997
PubMed
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A rare case of infantile hyperlipoproteinaemia due to lipoprotein lipase deficiency presenting as bronchopneumonia is described. Diagnosis was confirmed by enzyme activity testing, highlighting a critical genetic disorder in infants.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Lipoprotein lipase deficiency (LPLD) is a rare inherited disorder of lipid metabolism.
  • It leads to severe hypertriglyceridemia and characteristic clinical manifestations.

Observation:

  • A 3-month-old infant presented with symptoms of bronchopneumonia.
  • Clinical examination revealed lipaemic serum and lipaemia retinalis, suggesting severe hyperlipoproteinemia.

Findings:

  • The infant was diagnosed with lipoprotein lipase deficiency.
  • Confirmation was achieved through post-heparin lipoprotein lipase enzyme activity assays.

Implications:

  • Early diagnosis and management of LPLD are crucial in infants to prevent severe complications.

Related Experiment Videos

  • This case underscores the importance of considering rare metabolic disorders in pediatric patients with unusual presentations.