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Fat oxidation defect presenting with overwhelming ketonuria.

E Wraige1, M P Champion, C Turner

  • 1Department of Paediatric Metabolic Medicine, Guy's Hospital, London, UK.

Archives of Disease in Childhood
|October 23, 2002
PubMed
Summary
This summary is machine-generated.

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Ketonuria usually rules out fat oxidation issues. However, this case shows very long chain acyl CoA dehydrogenase deficiency can occur with significant ketonuria in a child with hypoglycemia.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Genetics

Background:

  • Fatty acid oxidation is crucial for energy production.
  • Defects in this pathway can lead to severe health issues.
  • Ketonuria is typically associated with normal fat metabolism during fasting or hypoglycemia.

Observation:

  • A 2-year-old girl presented with hypoglycemic encephalopathy.
  • The patient exhibited massive ketonuria.
  • Acylcarnitine analysis suggested a specific metabolic defect.

Findings:

  • The diagnosis of very long chain acyl CoA dehydrogenase deficiency was suspected.
  • This finding challenges the conventional understanding of ketonuria in metabolic disorders.
  • Acylcarnitine profiling proved valuable in diagnosing the condition.

Related Experiment Videos

Implications:

  • Revises the interpretation of ketonuria in the context of hypoglycemia.
  • Highlights the importance of acylcarnitine analysis for diagnosing fatty acid oxidation defects.
  • Improves understanding of metabolic encephalopathies in children.