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Related Experiment Videos

Mitochondrial DNA depletion in children.

C Y Tsao1, J R Mendell, M Luquette

  • 1Department of Pediatrics and Neurology, College of Medicine and Public Health, The Ohio State University, Columbus 43205, USA. ctsao@chi.osu.edu

Journal of Child Neurology
|February 24, 2001
PubMed
Summary

Severe mitochondrial DNA depletion caused failure to thrive, organ damage, and early death in two infants. This condition requires consideration in diagnosing children with unexplained developmental delays.

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Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Mitochondrial DNA (mtDNA) depletion is a group of genetic disorders characterized by reduced levels of mtDNA.
  • These disorders can lead to severe multi-systemic complications, particularly affecting high-energy-demand organs like the brain, liver, and muscles.

Observation:

  • Two unrelated infants presented with failure to thrive, hypotonia, hepatomegaly, hypoglycemia, and lactic acidosis.
  • Both siblings exhibited severe mtDNA depletion and respiratory chain complex IV deficiency in muscle and liver, without common mtDNA mutations.
  • The brother also developed chemical pancreatitis, a previously unreported complication in pediatric mtDNA depletion.

Findings:

  • Severe mtDNA depletion can manifest with nonspecific early symptoms like vomiting and failure to thrive.

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  • Multiorgan involvement, including hepatomegaly, pancreatitis, and myopathy, typically emerges later in the disease course.
  • The siblings experienced hepatic failure and hemorrhagic complications, leading to death before six months of age.

    • Implications:

    • Mitochondrial DNA depletion should be included in the differential diagnosis for pediatric cases of failure to thrive or developmental delay of unknown origin.
    • Early recognition and diagnosis of mtDNA depletion are crucial for potential management and genetic counseling.
    • This case highlights the potential for severe, early-onset presentation and novel complications like pancreatitis in mtDNA depletion disorders.