Lactic acidosis in childhood: Part I

Area of Science:

• Biochemistry
• Metabolic Disorders
• Acid-Base Physiology

Background:

• Lactic acidosis is a common feature of various acquired and inherited metabolic diseases.
• Lactic acid plays a crucial role in anaerobic glycolysis, gluconeogenesis, and maintaining acid-base balance.
• Understanding these roles is essential for diagnosing and managing metabolic disorders.

Purpose of the Study:

• To elucidate the mechanisms underlying lactic acidosis in metabolic diseases.
• To highlight the diagnostic significance of lactic acid and related metabolites.
• To outline treatment strategies for lactic acidosis and associated metabolic complications.

Main Methods:

• Review of the biochemical pathways involving lactic acid metabolism.
• Analysis of conditions leading to increased pyruvate production or impaired pyruvate catabolism.
• Examination of systemic factors like tissue hypoxia and mitochondrial injury.
• Correlation of metabolic abnormalities with specific inborn errors.

Main Results:

• Lactic acidosis stems from increased pyruvate production, inhibited pyruvate catabolism, or shifts favoring lactic acid formation.
• Tissue hypoxia and mitochondrial injury are significant causes of systemic lactic acidosis.
• Metabolic profiling (glucose, pyruvate, amino acids, organic acids) aids in identifying inborn errors.
• Acquired disorders require removal of precipitating causes, while inborn errors may have specific therapies.

Conclusions:

• Lactic acidosis is a critical indicator in metabolic diseases, linked to pyruvate metabolism and systemic factors.
• Metabolic profiling is vital for diagnosing inborn errors associated with lactic acidosis.
• Effective management involves addressing underlying causes, correcting acidosis, and treating complications like hypoglycemia.