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[Lactate acidosis in childhood]
J Zeman1, L Stratilová, H Houst'ková
1Klinika dĕtského a dorostového lékarství 1., Praha.
Insights
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.
Background:
Secondary lactate acidosis is found in children with hypoxaemia, with impaired tissue perfusion, in hepatic and renal failure or in intoxications. Primary lactate acidosis is usually caused by hereditary metabolic disorders. The objective of the trial was to analyze the causes which lead in childhood to the development of primary hyperlactacidaemia.
Methods And Results:
The authors examined during 1995-1996 the lactate and pyruvate concentration in 479 children referred by paediatric and neurological departments with a suspect hereditary metabolic disturbances. A raised lactate in blood or cerebrospinal fluid > 2.3 mmol/l was found in 230 children incl. 49 where a metabolic disorder was detected. Ten children had impaired cytochrome c oxidase, two children had a combined deficience of NADH dehydrogenase and cytochrome c oxidase, three children had a deficience of the pyruvate dehydrogenase (PDH) complex, one child had a deficience of ATP synthase and seven children suffered from impaired beta-oxidation. Glycogenosis type I, III or IX was found in 13 children. In three children organic aciduria was found, two children had an impaired urea cycle and three children impaired fructose metabolism. In five children a low level of free and total carnitene was found as a result of valproate treatment. A significant increase of the lactate level by more than 1 mmol/l during an oral glucose load was found in 11 of 16 children with impairment of the respiratory chain or PDH complex. In 58 children concurrently lactate in blood and cerebrospinal fluid assessed but no correlation of lactate levels was found.
Conclusions:
In patients with suspect hereditary metabolic disorders examination of lactate, pyruvate and alanine levels can be considered a screening test for detection of mitochondrial disorders. It remains difficult to reveal the cause of hyperlactacidaemia in a sick child even if a wide range of laboratory methods are used which contribute to the diagnosis of hereditary metabolic disorders.