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[Lactate acidosis in childhood]
J Zeman1, L Stratilová, H Houst'ková
1Klinika dĕtského a dorostového lékarství 1., Praha.
Casopis Lekaru Ceskych
|November 18, 1998
Summary
Primary hyperlactacidaemia in children often stems from hereditary metabolic disorders. Measuring lactate and pyruvate levels can help screen for mitochondrial disorders, though diagnosing the exact cause remains challenging.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Genetics
Context:
- Secondary lactate acidosis is common in children with hypoxemia, impaired perfusion, organ failure, or intoxication.
- Primary lactate acidosis in children is typically linked to underlying hereditary metabolic disorders.
Purpose:
- To investigate the causes of primary hyperlactacidaemia in childhood.
- To analyze the diagnostic utility of lactate and pyruvate measurements in suspected hereditary metabolic disorders.
Summary:
- A study of 479 children with suspected hereditary metabolic disturbances revealed elevated lactate levels in 230, with 49 diagnosed with a metabolic disorder.
- Specific deficiencies identified include mitochondrial respiratory chain defects (cytochrome c oxidase, NADH dehydrogenase), pyruvate dehydrogenase complex deficiency, ATP synthase deficiency, beta-oxidation impairment, glycogenosis, organic aciduria, urea cycle defects, and fructose metabolism issues.
- Elevated lactate post-glucose load indicated respiratory chain or pyruvate dehydrogenase complex impairment in 11 of 16 children.
Impact:
- Lactate, pyruvate, and alanine level assessment serves as a valuable screening tool for identifying mitochondrial disorders in children with suspected metabolic conditions.
- Accurate diagnosis of hyperlactacidaemia causes in pediatric patients remains complex despite extensive laboratory investigations.