Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis

An 11-month-old girl with severe acidosis, lethargy and vomiting, was diagnosed with holocarboxylase synthetase deficiency. She received biotin and was stable until age 8 years when vomiting, severe acidosis, hypoglycemia, and hyperammonemia developed. Management with intravenous glucose aiming to stimulate anabolism led to hyperglycemic ketoacidosis. Insulin therapy rapidly corrected biochemical parameters, and clinical status improved. We propose that secondary Krebs cycle disturbances affecting pancreatic beta cells impaired glucose-stimulated insulin secretion, resulting in insulinopenia. [Display omitted] •Holocarboxylase synthetase deficiency (HLCSD) is a treatable metabolic disease.•Hyperglycemic ketoacidosis is a rare but recurrent presentation of HLCSD.•In an HLCSD patient with hyperglycemia and ketoacidosis, insulin therapy (0.01 U/kg/h) was associated with rapid recovery.•In HLCSD patients with hyperglycemia, beta cell dysfunction should be considered, and insulin levels should be measured.