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Hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia.

J Kitaura¹, Y Miki, H Kato

¹Department of Paediatrics, The University of Tokyo Hospital, Japan.

European Journal of Pediatrics

|May 20, 1999

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Two infants experienced persistent hyperammonaemia alongside hyperinsulinaemic hypoglycaemia. Increased 2-oxoglutaric aciduria was observed, suggesting potential glutamate dehydrogenase gene mutations.

Area of Science:

Biochemistry
Pediatrics
Genetics

Background:

Hyperinsulinaemic hypoglycaemia is a critical condition in infants.
Persistent hyperammonaemia can indicate metabolic disorders.

Observation:

Two unrelated infants presented with hyperinsulinaemic hypoglycaemia and asymptomatic hyperammonaemia (100-300 micromol/l).
Amino acid and organic acid profiles were normal, ruling out typical urea cycle defects.
Blood glucose levels were critically low (approx. 1.2 mmol/l) with elevated insulin (35 and 22 mU/l).

Findings:

Hyperammonaemia was independent of blood glucose levels and pancreatectomy.
Elevated 2-oxoglutaric aciduria (3.15 mg/mg creatinine) was noted in one infant.
These findings suggest a potential link to glutamate dehydrogenase gene mutations.

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Implications:

2-Oxoglutaric aciduria may serve as a key diagnostic marker for this specific syndrome.
Early identification of this condition is crucial for timely intervention in affected infants.
Further research into glutamate dehydrogenase gene mutations is warranted.