Hyperinsulinism Differential Diagnoses

Updated: Dec 16, 2015
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
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Diagnostic Considerations

Patients with hyperinsulinism usually have elevated levels of insulin for their glucose concentration, meaning even if they do not have hypoglycemia, their insulin level is inappropriately high for their glucose levels (ie, plasma insulin level >2 µU/mL when blood glucose level is < 60 mg/dL). In contrast, patients with the following disorders have an appropriate concentration of insulin for the simultaneous glucose concentration:

  • Adrenal insufficiency

  • Disorders of branched-chain amino acids

  • Enzymatic block in the Cori and alanine cycles

  • Fatty acid release/oxidation (ketone synthesis) disorders

  • Mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A synthase deficiency

  • Ketone use disorders

  • Mitochondrial succinyl–coenzyme A transferase deficiency

  • Mitochondrial acetyl–coenzyme A acyltransferase deficiency

  • Fructosemia

  • Galactosemia

  • Glycerokinase deficiency

  • Glycogen-storage disease type Ia and type Ib (von Gierke disease, glucose-6-phosphatase deficiency)

  • Glycogen-storage disease type III (Cori disease; amylo-1, 6-glucosidase deficiency)

  • Glycogen-storage disease type VI (Hers disease, phosphorylase deficiency)

  • Growth hormone deficiency

Differential Diagnoses