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[Hyperthyroidism in early childhood and a very rare variant of glutaric aciduria: coincidence or causal relation?]

P Müller1, J Buschmann, L Wagner

  • 1Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig. muep@server3.medizin.uni-leipzig.de

Klinische Padiatrie
|February 28, 2001
PubMed

Insights

This study describes a rare case of childhood hyperthyroidism (thyrotoxicosis) in a 3-year-old boy, uniquely associated with ketotic hypoglycemia and high glutaric acid excretion. The patient was diagnosed with glutaric aciduria type III, a condition previously reported only once.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Metabolic Disorders

Background:

  • Hyperthyroidism (thyrotoxicosis) in early childhood is rare, presenting with symptoms like tachycardia, restlessness, and goiter.
  • Glutaric aciduria encompasses several metabolic disorders, with types I and II being the most recognized.
  • Glutaric aciduria type III is an extremely rare condition, previously described only once in medical literature.

Observation:

  • A 3-year-old boy exhibited classic symptoms of thyrotoxicosis.
  • The patient also presented with concurrent ketotic hypoglycemia.
  • Excessively high levels of glutaric acid were detected in the patient's urine.

Findings:

  • Specific genetic defects for glutaric aciduria types I and II were ruled out.
  • The patient was diagnosed with glutaric aciduria type III.
  • This case represents a novel association between thyrotoxicosis and glutaric aciduria type III.

Implications:

  • This case expands the known clinical spectrum of glutaric aciduria type III.
  • Highlights the importance of considering rare metabolic disorders in children with unexplained thyrotoxicosis and hypoglycemia.
  • Suggests potential links between endocrine and metabolic pathways in pediatric diseases.

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