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Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

L Filippi1, E Gozzini, C Cavicchi

  • 1Neonatal Intensive Care Unit, Department of Critical Care Medicine, A. Meyer University Children's Hospital, viale Pieraccini, 24, 50134, Florence, Italy. l.filippi@meyer.it

Journal of Inherited Metabolic Disease
|July 10, 2009
PubMed

Insights

Insulin-resistant hyperglycemia in infants with methylmalonic or propionic acidemia indicates a severe condition. Reducing glucose administration may improve outcomes, as one infant survived after this intervention.

Area of Science:

  • Biochemistry
  • Pediatric Medicine
  • Metabolic Disorders

Background:

  • Organic acidemias, such as methylmalonic acidemia and propionic acidemia, are rare genetic disorders.
  • These conditions can present with severe metabolic disturbances, including ketoacidosis and hyperammonemia.
  • Insulin resistance and hyperglycemia are occasionally observed complications in affected infants.

Observation:

  • Two term infants with acute early-onset methylmalonic acidemia and propionic acidemia, respectively, presented with dehydration, ketoacidosis, and hyperammonemia.
  • Diagnostic analyses confirmed the specific organic acidemias and identified genetic mutations.
  • Both infants exhibited significant insulin-resistant hyperglycemia, with elevated propionylcarnitine levels suggesting metabolic intoxication.

Findings:

  • The presence of insulin-resistant hyperglycemia in neonatal-onset methylmalonic and propionic acidemias appears to be a marker of disease severity.
  • One infant with this complication survived after a significant reduction in glucose administration, while the other did not.
  • Genetic analysis identified specific mutations in the MUT gene for methylmalonic acidemia.

Implications:

  • Reducing glucose administration in infants with organic acidemias and insulin-resistant hyperglycemia may mitigate the risk of persistent hyperglycemia.
  • This intervention, though potentially partial, offers a strategy for managing a critical complication.
  • Further research is necessary to validate the hypothesis that glucose reduction improves survival and outcomes in these rare metabolic disorders.
Abstract

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